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Archive for the ‘Male Genetics’ Category

Infertility: What you need to know – WRVO Public Media

Infertility affects about 10%of women ages 15-44 in the United States, according to the Centers for Disease Control and Prevention (CDC). That's 6.1 million people. With infertiliy affecting so many, its important to understand what it is and how its treated.

Dr. Zaraq Khan is a gynecologist at the Mayo Clinic. He joined us on Take Care to discuss the basics of infertility and what that means for couples going through it.

Classically, infertility is defined as a couple attempting to achieve pregnancy and not having success for about 12 months for women who are 35 years or less, Khan said. And for women 35 and older, its after six months of trying. Waiting even six months, though, can be tortuous for many couples, so Khan recommends checking with an infertility clinic after two to three months of no success.

Khan said that, thankfully, the dogma around infertility is changing: the World Health Organization now classifies it as a disease, and it can be treated.

More and more, were talking about infertility as being a disease and a disease that impacts quality of life, he said. And in my opinion, I think a couple needs to seek fertility evaluation anytime they feel like theyre not getting to their goals.

Khan said what is often overlooked is the couple perspective of infertility.

I feel like we should be talking about couples and not women, he said. We tend to forget about the men in the equation quite a bit.

Khan said that about 20% of infertility cases he sees are a result of male infertility, but social norms still place the blame on the woman.

Infertility is a couples medical problem, though it becomes a womans social burden to bear, he said.

With both parties factored in, Khan said about 15% of couples will have some sort of trouble in achieving a pregnancy. But that number is also influenced by age.

"We need to start talking about the importance of infertility because we're not only creating awareness; we're actually helping these couples that feel like they're on an isolated island."

Age largely determines a womans ovarian reserve, meaning the number of eggs in her body at the time of birth. That is a finite number, so that does present a bit of a time clock for optimal fertility conditions, Khan said.

We have this limited amount of time that we can then utilize to our advantage, but that decline in ovarian age, unfortunately, doesnt go hand in hand with advancement of chronologic age, he said.

That doesnt mean that nothing can be done about it, Khan said.

We cannot change parameters of ovarian reserve, but we definitely want to check for them to make sure that the person has an adequate amount of egg supply, Khan said.

Age 35 is that line in the sand, Khan said, that is generally seen as the average age at which women are affected by ovarian age. This increases by 38 and excessively after the age of 40, Khan said.

Over the past few decades, the rate of infertility has remained largely unchanged, at around 10 to 15% worldwide, Khan said. And in those cases, there are some typical causes, like low ovarian reserve and issues with sperm and semen.

Ovarian reserve issues are typically genetic, as many infertility causes are, Khan said. This is why its important to look into family history and discuss it with medical professionals.

Genetic history and a family history is exceedingly important from a couple that we see at their first intake, Khan said. There are definitely certain genetic diseases that can predispose a person or an individual to infertility.

Some of the common genetic diseases that impact infertility are chromosomal abnormalities, Khan said.

Getting a holistic family history as well as an infertility history of the family is very important, and then, based on a case-by-case basis, we can make those decisions of whether that couple would warrant or benefit by seeing a geneticist, he said.

There are other tell-tale things to look for, Khan said, which is why he and others like making sure the uterus is anatomically normal and doesnt have any abnormalities and that the female has patent fallopian tubes to carry the egg.

Khan is sensitive to the fact that these conversations arent common in families, so he knows it can be a hard topic to discuss.

The area of medicine that we work in not necessarily is a common speaking point amongst friends or social circles, so I do agree that are dealing with subjects that are very, very personal, and I think thats why having a very honest conversation and a good report with your patients is going to help, Khan said.

Unfortunately, these issues are not often talked about, which Khan said is leading to ignorance, misinformation and a lack of understanding all around.

If they dont hear that other people have been through something impactful or life-altering like infertility treatment, that feeling of isolation kicks in, and I feel like that in itself is a big blow for the morale with couples that are dealing with infertility, Khan said.

The solution? We need to discuss infertility more often, Khan said.

We need to start talking more about these issues, he said. We need to start talking about pregnancy loss. We need to start talking about the importance of infertility because were not only creating awareness; were actually helping these couples that feel like theyre on an isolated island.

Though Khan encourages struggling couples visit an infertility clinic when theyre not finding success, he cautions that there might not always be a clear explanation.

We would love to say that we can answer all questions, but, unfortunately, we -- meaning medical science -- hasnt advanced enough where we are able to specifically answer each question, he said.

About 1 in 5 patients that Khan and others see in his clinic dont have any obvious reason for infertility, which he calls unexplained infertility. However, even if the reason is unclear, the infertility is still treatable, Khan assured.

And fortunately for couples going through fertility, there are advancements that will help make that treatment easier coming in just a couple decades, Khan estimated. He said hes excited mostly about advancements to methods used to select embryos for transfer.

Most of that selection is currently done by grading embryos based on visual observation, but that may soon change.

What I think were going to start seeing in the next decade or two decades is the use of artificial intelligence that will be able to tell us which embryo would be the best one to transfer, Khan said.

Khan and other researchers are studying how embryos are divided, and Khan said that soon, bioinformatic software and articial intelligence can take that data and decide algorithms and devise different ways of deciding on its own which embryos will be destined for a pregnancy.

I think thats something very, very exciting that is going to be upcoming, he said.

Khan said he also projects future research that will help decrease false positives in genetic testing of embryos.

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Infertility: What you need to know - WRVO Public Media

Behind the Buccaneers: Vita Vea – Buccaneers.com

Have you played any pranks on certain teammates?

Here? I didnt do too many pranks here. I just do small jokes. I feel like in our D-line group, we like to make fun of each other so I guess just doing that, giving each other a hard time. But we all laugh. Its no hard feelings, everyone knows were playing around.

It sounds like you guys are a little family on the D-line.

What about your family at home? How many brothers and sisters do you have?

I only have one brother and one sister.

When did football start for you? Do they play sports, too?

I followed my brother into football. He played first. My mom only let him play football. I was the youngest so I didnt really have that freedom. She was too scared to let me play. Then when

I did play, I was too big to play in my class. So I was fifth grade playing with the eighth graders and high schoolers. But I didnt play though because everyone was older than me and I hadnt developed and matured and they had been playing for a while. I didnt really understand it like they did so I didnt play much. I did that for two years and then middle school, I stopped playing pop warner. Just went to school. I got into basketball because I was taller than everybody. Thats what I played. I didnt really get big until after high school. The closest thing I got to football was flag football in middle school. That was fun. They were letting me play tight end and running back.

Do you have any of that in your background because I feel like youre so agile.

I feel like part of it is genetics. My moms side, all of her family are into sports. They all play rugby. My dad played soccer, so he was the quick feet guy. But then at a young age, I started to play tennis. My first sport was tennis.

Ive heard that! Ive heard people say listen, if you want your kid to be a good athlete, start them in tennis.

Thats what it was. I started off in tennis and I played for eight years.

Yeah, it was a program where we grew up in our neighborhood. Our parents were working nonstop so it was an afterschool program. They did tutoring. You go over there and theyd give you tutoring, theyll feed you and then you get to play tennis. For young kids, you just go out there and they teach you the fundamentals. As you grow older, you start competing against each other and then in the summertime you start competing in tournaments. Some were better than others.

I was all right. I was good, I was good. But I never really took it serious because I knew I wasnt going to go far in tennis. I knew it was just a temporary thing because my parents had to work so I knew I had to be there. But now I look back at it and it was really helpful because it helps a lot with agility, hand-eye coordination, acceleration, being explosive. Especially playing singles. Doubles not as much but when youre playing singles, you have the whole court to run around and hit the ball, then they hit the ball back and you have to hit it back.

Do you still pick up a tennis racket every now and again?

I havent in a while but I feel like playing it for eight years, its just like riding a bike for me now.

So what else do you do for fun then away from the field? Whats your happy place?

I feel like my happy place is just being on the water or just being with friends and family. Since weve been back, I feel like its been really cool just hanging out with the D-line. When we have time off, we just all link up and have a good time.

What do you guys do when you hang out?

We do a lot of stuff. Weve picked up a lot of hobbies.

The main hobby were into right now is fishing.

Everyone in Florida fishes!

We fish. Youll see theres bumps all over my arm because we went to this place, I think its called Upper Tampa Bay Park and they have these canoes you can rent out. We just took our fishing poles on there. And you couldnt see these mosquitos, that was the thing. Beau told us that theyre called this what Beau said dont quote me, this is Beau. He said those mosquitos are called cant see em.

Thats what theyre called. Im telling you. You cant see them, so theyre called cant see ems.

How different is Florida then? Because you grew up in California.

Shoot. The humidity and the heat. Thats the biggest thing. I grew up in Northern California so it wasnt as sunny. If you go to California for weather, you go to San Diego or LA. Everyone comes to Northern California to network. Everything is in the Bay Area.

Are you all Yay Area as far as music goes?

Thats what I grew up on. E-40, Mac Dre, who else? Theres a lot of them. Theres an up and coming artists, Kamaiya, Keak Da Sneak. The Governor. You heard The Governor?

Damnnn. Theres an up and coming dude named Stunna June. Hes a Tongan guy. Hes representing for the culture. Theres a lot of them. Theres Cookie Money. BRBE. Youve probably heard of them.

Its this whole microcosm of rap. Its its own little world.

Tupac said it the best. The Bay Area got their own little style. We have our own little style of music. Its different. Thats the biggest thing. I feel like people come to the Bay Area to network. People come to the Bay Area to get put on game with their business or whatever theyre seeking. Whatever theyre looking for, its in the Bay Area. Thats where its at. People dont come to the Bay Area for weather. Its probably raining over there right now to be honest. Its very similar to Seattle, because thats where I went to college. Theres similarities but Seattle, it doesnt rain as much. It sprinkles. Its beautiful in Seattle.

You guys and Autzen (in Oregon) were the toughest places to play. And Pullman, that was a tough place to play for our guys - I went to Arizona State.

U-Dub is top of the line of the Pac-12. Were on the water. People come sail gate. How many stadiums can you say that you went to and were sailgating? They say U-Dub is the best setting in college football

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Behind the Buccaneers: Vita Vea - Buccaneers.com

My Wife Hates It, The Mustache Is A Reminder For Mental Health – kdhlradio.com

Novem.. I mean Mo'Vember is here. I generally already look like a 12-year-old, I'm not very tall, and lack the natural ability to grow good looking facial hair (thanks genetics). So instead I am rocking a rediculous looking mustache, not for the stares, or because I am thinking of becoming a Freddy Mercury impersonator. I'm wearing it to bring about awareness of suicide awareness and men's mental health.

I carved what I have of facial hair into this very same mustache during the very brief Twins playoff run (remember that?) in honor of Game 2's starter, and former 5 star Uber driver Randy Dobnak. My wife absolutely hates it. She has already threatened me with shaving it off while I sleep. My brother teases me with not allowing his kids to see me while I am in this state. However I'm not doing this for them, well I am, especially my brother 3 kids under the age of 5, but it is all about the awareness.

Minnpost.comhas a great statistic about men's mental health and suicide awareness. "The suicide mortality rate for women in Minnesota is about 5.4 per 100,000 below the national rate of 6.1 per 100.000. The suicide mortality rate for men in Minnesota is on par with the national rate, at 22.4 per 100,000 residents."

I was aJunior in high school when I experienced the effects of suicide. A former wrestling teammate, who had graduated the year before, was at college when he took his own life over the holiday break. It was a moment in my life that I still remember.

The National Center for Health Statistics says nearly 1 in 10menexperience depression and anxiety: According to a poll of 21,000American menby researchers at the National Center forHealth Statistics(NCHS), nearly one in tenmenreported experiencing some form of depression or anxiety, but less than half sought treatment.

It's ok to talk to someone about your feelings. Whether that person is a professional, or you've got a good friend that you can talk to when you just need to.

This November I want you to make the decision to start to share those feelings if you are experiencing them. Have a conversation about mental health with your dad or your kids. Let them know that it is ok to share how you are feeling.

If you feel like it, I am looking to raise funds this November that goes towards mental health and suicide awareness. You can do that here.

Original post:
My Wife Hates It, The Mustache Is A Reminder For Mental Health - kdhlradio.com

Doping is still really bad today: Former Belgian champion reveals own blood doping past in gritty autobiographical film – Cycling Weekly

Cycling is in your blood. Its passed on from father to son. And if its in you, you can fight it all you want, you cant escape it.

But if theres one thing Ive learned from my dad, its fighting. Fighting against everything and everyone. Especially against yourself.

These are the opening lines of Kenneth Merckens The Racer, a film about his own experiences of the murky world of doping in professional cycling.

Mercken was an up and coming prospect, winning a national amateur championship in his homeland of Belgium in 2000. On his way to becoming pro, helped along by performance enhancing drugs, the now 43-year-old turned his back on the sport and instead enrolled at film school, graduating in 2011.

This year hes released an autobiographical film about his career. The central conflict of The Racer isnt between the young Belgian rider and the performance enhancing drugs, at the turn of the millenium that was par for the course. Instead, Merckens sullen father, a rider who never fulfilled his own ambitions, provides his son with a route into the sport, encouragement to dope, and also the emotional baggage that culminates in the young riders eventual implosion.

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When I was 14 I wouldnt even swallow a vitamin,so I was principally against it, Kenneth says of his route into doping.It kind of started very innocently. When I was 16 years oldI started to use some caffeine and that worked really well for me, but you cant call that doping really.

But it did kind of ease the way in, and at a certain point I went to the doctor and he actually extracted some blood and enriched it. Technically, that can be called blood doping because its taking it out of the body and re-infusing it.But of course, in those days it wasseen as innocent but It was kind of shady.

Merckens story is a familiar one, of lines incrementally being crossed until a dose of EPO is no bigger of a deal than your morning coffee.

Once you get used to the needles [it becomes normal]. The first time I injected myself was like with magnesium, and of course thats a mineral so its not doping, but that kind of eases the way to other products, Mercken says. Its also culture within the sport, there are guys shooting around you, you get the feeling thatyou will never make it if you dont.

Whilst the riders in the film depicting Mercken and his former team-mates just look like any other skinny two-wheel obsessives, its important to remember these riders were barely adults, while the real-life grown-ups were the ones providing and encouraging the use of PEDs.

It just became totally normal, Mercken says. Iremember a momentinItaly and my team bossgave me a flagon of EPin a clandestine way and said tuck it away in your trainers, make sure the others dont see it.I then went upstairs and they were all shooting EPOand in the meantime all talking about the weather.

In one way it had become something banal, but in another way everybody knew this was something big.

The depiction of the real, lived experience of doping is done with such candour that its refreshing, as well as being obviously concerning. The stress of the young men trying to make it to the next level in their career while trying to make peace with the fact theyre cheating often proves combustible. There are fallings-out and emotions are nearly always running high. Merckens is a rare story about cycling where the finish line and who crosses it is of little importance.

While the Belgians decision to start doping was gradual, getting out of that world was a decisive moment.

I went to see the doctor and she told me that I had to use a growth hormone because of my delayed puberty. And I was like yeah lets do it. Everybody else was doing it. Why not me? And then she said hold on, youre gonna have to do it your whole career every day.

Then she told me I might have a higher chance of cancer if I take it that much. And really the moment I heard those words was the moment I realised that it was over, it was an epiphany. Then back in the team house I decided to do film school or to go to acting school.I really made the decision on a whim like that.

Basically, one day woke up. I realised that it was all crazy and Id gone too far.

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And what does he think of the doping landscape now? Having retired before his pro career had really begun, and with no skin in the game anymore, Mercken is unfailingly honest with his insight.

I think its a bit better as the time when the film is situated was a really crazy time and theres a lot more products that can be traced nowadays, Mercken says, before admitting: I think its still really bad.

Every once in a while theres a new product, which they cant trace. Theyre still using EPO, still using a lot of cortisone. Yeah, its still really bad I think, and maybe its just part of the sport, I dont know. And I dont know whats going to happen when genetic doping is going to be developed or become widespread.

Mercken does, however, see hope for the future due to the fact that young riders are now able to compete in some of the biggest races, potentially hinting at the likes of Remco Evenepoel, who won the Clsica San Sebastin this year at the age of just 19.

Im still hopeful because I think nowadays you see young kids that are 19 years old that can win big races with the pros again, that was impossible in my day.

So that means something has changed and that theres a different mentality that now its possible, because in my day youd have to get used to all those products and after 10 years, maybe you you get to a good level. So I think nowadays it is possible for somebody whos clean and got a lot of balance to get very far and that makes me hopeful.

And what about his Dad? How did he react to being portrayed as such a brutal character by his own son?

The first time he saw the film, was at the film festival in Ghent at the international premiereand his first reaction was thatI didnt portray him as brutal enough, Mercken laughs.

I think it was just a macho reaction, to hide himself behind that.But afterwards we had a few drinks andsuddenly he became silent, and then he told me I was wrong.

That was very strange for me to hear because he never said that to me. And thats the only time he ever said it to me, heprobably wont repeat it anymore. I felt confused and maybemaybe afterwards happy you know that that maybe the film has a meaning and maybe it can make people change. Even him. Make him change his mind and realise things.

The film opens with his Dad winning a local race, and a pre-teenage Mercken tugging at his jersey trying to get his attention, but he is ignored as his father revels in the glory and adulation of TV cameras and fans.

The film closes with grainy home footage of the same scene, but this time its the real Mercken and Mercken Snr. Despite the theatrics and metaphors used in the film, Mercken coughing up blood after collapsing on the side of the road during the baby Giro or a crazed Russian team-mate firing a gun in their teams guest house, this real moment does more to portray the pain of professional cycling than double-digit gradients ever could.

The Racer (Coureur) had its UK Premiere at Raindance Film Festival and will be available on digital download from November 4.

Link:
Doping is still really bad today: Former Belgian champion reveals own blood doping past in gritty autobiographical film - Cycling Weekly

Takahe on the move – Otago Daily Times

Orokonui volunteer Eeva-Katri Kumpula has recently been volunteering at the Burwood Takahe Centre, and has this update on the Orokonui takahe offspring who have previously left the sanctuary and gone on to help in the recovery programme.

Spring is in the air, and with it takahe from the coldest reaches of Fiordland to not-so-freezing Waitati to tropical Hauraki Gulf are preparing to get busy. Breeding season has started. Takahe couples are looking their best in their most iridescent blues and greens, territories are determined and fiercely defended, and much secrecy surrounds their nest locations.

The resident takahe pair at Orokonui, Paku and Quammen, have already had their first nesting attempt for this season. Unfortunately, the first eggs were not fertile, but they are now sitting on a fertile foster egg from Fiordland. We hope to have good news about that in a couple of weeks. Paku obviously loves mothering chicks, and between them the pair have successfully raised four already.

Like many endangered species, takahe suffer from relative lack of genetic variation, and sometimes this causes problems with fertility. The Doc Takahe Recovery Team spends a lot of time trying to predict good breeding pairings, and the results of nesting attempts are followed closely. Unfortunately, sometimes pairs need to be split up and reorganised, if they are not successfully producing chicks. Another pairing may lead to better results. Every chick counts, as each one is needed to add to the slowly growing population. This is the year when the takahe population officially passed 400 - for the first time in a couple of hundred years, give or take.

This is why it has been so fantastic that Orokonui has been able to contribute to the recovery efforts. The ecosanctuary has been a safe place for chicks to be raised, and other birds have stayed there temporarily. "Learning to takahe" inside the safety of the predator-proof fence has helped Orokonui-raised birds to go on to teach others. Mihiwaka, the male chick from the 2017-18 season, first learned bush skills at Orokonui with Paku and Quammen, then went to Burwood to join two other juvenile males in learning to survive in Fiordland conditions from two experienced adult takahe there. The birds there know how to burrow into snow and stay all snuggly and warm underneath in winter, and how to find food and water in those conditions. So after this learning period he is now proudly representing the Orokonui takahe whanau among the wild takahe population in the rugged Murchison Mountains.

The first takahe to hatch at Orokonui, Kotahi, is still living at Burwood Takahe Centre in Fiordland. He and partner Weydon have successfully hatched three chicks already in previous breeding seasons. They now have two juvenile helpers (yearling birds), Emerald and Te Raukawa, helping them this season. Takahe collaborate in "child care" within these family units that may consist of birds that are not actual blood relations. The juvenile helpers can take their turns to sit on eggs to keep them toasty warm, freeing parents to go to get a feed, and they also help feed the new chicks. This is very beneficial for the species and chick survival, as the juveniles learn life skills and parenting for the future from the adult pair, and the new chicks have more beaks to feed them. Sometimes the helpers are actually feeding the chicks more diligently than the parents.

Luckily takahe are not too particuar about whose eggs they sit on, so there are opportunities for swapping eggs from nest to nest as needed. Paku and Quammen have already raised three foster chicks at Orokonui, where fertile eggs were brought from Fiordland nests for them to incubate and care for. The Fiordland pairs then lay another clutch, and the numbers of chicks produced can be increased.

The male Orokonui foster chick from 2016-17, Wheko, is happily living with his long-time partner Jenkins up in Burwood in Fiordland. They have already produced one chick together, this past season. And now they are preparing for the breeding season with juvenile helpers Rough and Wera. Wheko's sister Tumanako and her partner Bendigo don't currently have juveniles with them, but fingers crossed for chicks there too. In the meantime, back in their childhood home Orokonui, their foster parents, Paku and Quammen, are busy trying to produce new offspring of their own. If all goes well, perhaps one day those chicks will be juvenile helpers for one of the now adult ex-Orokonui birds!

If you would like to support the conservation work done at Orokonui, you can find the donation details on the Orokonui website orokonui.nz/Support/Donations.

To contribute to their conservation, you can sponsor a takahe on the Doc Takahe Recovery website https://www.doc.govt.nz/our-work/takahe-recovery-programme/get-involved/...

Eeva-Katri Kumpula is a keen volunteer at many of New Zealand's ecosanctuaries, and is particularly attached to takahe.

See the original post here:
Takahe on the move - Otago Daily Times

Scientists Think They’ve Found ‘Mitochondrial Eve’s’ First Homeland – Livescience.com

Two hundred thousand years ago, the earliest shared ancestors of every living human on Earth rested their feet at a verdant oasis in the middle of Africa's Kalahari Desert.

Here, in a patchwork of now-extinct lakes, forests and grasslands known as the Makgadikgadi paleowetland, our greatest grandmothers and -grandfathers hunted, gathered and raised families for tens of thousands of years. Eventually, as Earth's climate changed, shifts in rainfall opened up fertile new paths through the desert. For the first time, our distant relatives had the chance to explore the unknown, putting behind them what a team of researchers now calls "the ancestral homeland of all humans alive today."

That's the story, anyway, told by a new paper published today (Oct. 18) in the journal Nature.

By studying the genomes of more than 1,200 indigenous Africans living in the southern part of the continent today, the team pieced together a history of one of the oldest DNA lineages on Earth: a collection of genes called L0, which is passed down maternally through mitochondria and has survived remarkably unchanged in some populations for hundreds of thousands of years. By tracking where and when the L0 lineage first split into the slightly different sublineages still seen in some indigenous African populations today, the researchers believe they have pinpointed precisely where the first carriers of L0 lived and thrived for thousands of years.

"We've known for a long time that humans originated in Africa and roughly 200,000 years ago," study author Vanessa Hayes, a geneticist at the Garvan Institute of Medical Research and University of Sydney, both in Australia, said in a news conference. "But what we hadn't known until this study was where, exactly this homeland was."

That "exactly" has some other researchers skeptical. Chris Stringer, a human origins expert at the Natural History Museum in London, told Live Science he is "cautious" about using modern genetic distributions to infer where ancient populations lived 150,000 years ago particularly in a continent as large as Africa. (Similar studies have traced the earliest human populations to various parts of eastern, western and southern Africa.)

Furthermore, he added, because the present study follows only one sequence of maternally inherited genetic code, its findings may not capture the full picture of humankind's earliest travels through Africa. Rather, the best available evidence suggests that multiple genetically-different founder populations may have lived throughout various parts of the continent, giving modern humans not one but several homelands.

"Like so many studies that concentrate on one small bit of the genome, or one region, or one stone tool industry, or one 'critical' fossil, it can't capture the full complexity of our mosaic origins," Stringer said.

Today, Makgadikgadi is one of the largest salt flats in the world. Climate models suggest that, 200,000 years ago, it was a fertile oasis.

(Image credit: Shutterstock)

The L0 lineage is a sequence of DNA encoded solely in mitochondria, a small structure in your cells that turns food into cellular energy.

Mitochondrial DNA accounts for just a fraction of your genome, with the bulk of your DNA locked away in cell nuclei. However, while nuclear DNA is inherited from both parents and recombines with every generation, mitochondrial DNA is inherited solely from your mother and can remain unchanged for tens of thousands of years. As such, mitochondrial DNA (also known as the "mitogenome") is a key tool for tracking genetic history.

L0 is especially important in that regard, as all living people are believed to descend on their maternal line from the woman who first carried the sequence, a hypothetical woman called "mitochondrial Eve." Today, the L0 lineage is found most commonly in the Khoisan people, two indigenous groups living in southern Africa. Numerous other groups of indigenous Africans carry mitochondrial DNA that descends from this lineage, but with subtle variations. By comparing those variations from group to group, geneticists can piece together a general timeline of when these ancient genetic lineages diverged.

In the new study, the researchers sequenced about 200 L0 mitogenomes in indigenous people living around southern Africa. When compared to a database of more than 1,000 existing L0 sequences, the dataset created one of the most comprehensive snapshots ever taken of how the ancient lineage and its closest offshoots are dispersed around southern Africa today. This distribution data allowed the team to estimate where and when mitochondrial Eve's descendants first split into separate, genetically distinct groups.

"Using that, we could pinpoint what we believe is our human homeland," Hayes said.

This homeland, the researchers suggested, is Makgadikgadi, a vast wetland some 46,000 square miles (120,000 square kilometers) in area, or roughly twice the area of Lake Victoria, Africa's largest lake today. The team found that mitochondrial Eve and her descendants lived in this region for about 30,000 years (from 200,000 to 170,000 years ago) before the L0 lineage split into its first subgroup.

"This tells us that these early humans must have stayed within the homeland region and not left" during that time, Hayes said.

So, why did our ancient ancestors finally leave their homeland, altering their genetic destinies in the process? According to the study authors, it may have been a matter of climate change.

Using climate models and sediment-core samples from the area, the team found that, from roughly 130,000 to 110,000 years ago, changing rainfall patterns opened up several "green corridors" of habitable land in the desert around Makgadikgadi. Corridors to the northwest and southeast of the wetland could have drawn migrants in those directions, leading them toward the areas where different indigenous groups still live today, the researchers wrote. This movement could adequately explain the distribution of L0 subgroups around southern Africa.

What it does not explain, however, is the other half of our genetic lineage (the male half). According to Stringer, there's not a lot of evidence that our earliest male ancestors walked a path like the one described here.

"Looking at the male-inherited Y chromosome, the most-divergent lineages currently known in extant humans are found in west Africa, not south Africa, suggesting our Y-chromosome ancestors may have originated from there," Stringer said.

The authors of the study do acknowledge that modern humans may have had multiple "homelands" where different genetic lineages took root; L0 is simply the best-preserved lineage, thanks to its strictly maternal provenance. So, while researchers may now be closer to pinpointing the little Eden where mitochondrial Eve started her family, it's still too early to say we've all found our homeland.

Originally published on Live Science.

(Image credit: Future plc)

Excerpt from:
Scientists Think They've Found 'Mitochondrial Eve's' First Homeland - Livescience.com

Smashing the patriarchy: why there’s nothing natural about male supremacy – The Guardian

Fathers are happier, less stressed and less tired than mothers, finds a study from the American Time Use Survey. Not unrelated, surely, is the regular report that mothers do more housework and childcare than fathers, even when both parents work full time. When the primary breadwinner is the mother versus the father, she also shoulders the mental load of family management, being three times more likely to handle and schedule their activities, appointments, holidays and gatherings, organise the family finances and take care of home maintenance, according to Slate, the US website. (Men, incidentally, are twice as likely as women to think household chores are divided equally.) In spite of their outsized contributions, full-time working mothers also feel more guilt than full-time working fathers about the negative impact on their children of working. One argument that is often used to explain the anxiety that working mothers experience is that it and many other social ills is the result of men and women not living as nature intended. This school of thought suggests that men are naturally the dominant ones, whereas women are naturally homemakers.

But the patriarchy is not the natural human state. It is, though, very real, often a question of life or death. At least 126 million women and girls around the world are missing due to sex-selective abortions, infanticide or neglect, according to United Nations Population Fund figures. Women in some countries have so little power they are essentially infantilised, unable to travel, drive, even show their faces, without male permission. In Britain, with its equality legislation, two women are killed each week by a male partner, and the violence begins in girlhood: it was reported last month that one in 16 US girls was forced into their first experience of sex. The best-paid jobs are mainly held by men; the unpaid labour mainly falls to women. Globally, 82% of ministerial positions are held by men. Whole fields of expertise are predominantly male, such as physical sciences (and women garner less recognition for their contributions they have received just 2.77% of the Nobel prizes for sciences).

According to a variety of high-profile figures (mainly male, mainly psychologists), bolstered by professorships and no shortage of disciples, there are important biological reasons for why men and women have different roles and status in our society. Steven Pinker, for instance, has argued that men prefer to work with things, whereas women prefer to work with people. This, he said, explains why more women work in the (low-paid) charity and healthcare sector, rather than getting PhDs in science. According to Pinker, The occupation that fits best with the people end of the continuum is director of a community services organisation. The occupations that fit best with the things end are physicist, chemist, mathematician, computer programmer, and biologist.

Whether someone has skills for maths, leadership or any gendered attribute can not be predicted fromknowing their sex

Others deny societal sexism even exists, insisting that the gender roles we see are based on cognitive differences spoiler: men are more intelligent. The people who hold that our culture is an oppressive patriarchy, they dont want to admit that the current hierarchy might be predicated on competence, Jordan Peterson has said, for instance. His reasoning suggests that women would be happier not railing against it but instead observing their traditional gender roles. Such theories have been demolished by a range of scholars, including neuroscientist Gina Rippon and psychologist Cordelia Fine.

There are certainly biological differences between men and women, from their sexual anatomy to hormones. Yet even this isnt as clear cut as it seems. For instance, around one in 50 people may be intersex with some sort of atypical chromosomal or hormonal feature thats about the same as the proportion of redheads. Mens brains are on the whole slightly larger than womens, and scans reveal some differences in the size and connectedness of specific brain regions, such as the hippocampus, in large samples of men and women.

And yet, only a tiny percent (between 0 and 8%) of individual men and women turn out to have a typically male or female brain. Most people are somewhere in the middle, and whether someone has skills for maths, spatial awareness, leadership or any other gendered attribute can not be predicted from knowing their sex, as multiple studies have shown. Anatomically and cognitively, there are more differences within the two sexes than between them.

There is no evidence that women are any less capable of the jobs and social positions that men predominantly hold. When women are given the opportunity to hold male roles, they show themselves to be equally proficient. Researchers recently calculated that it was bias against women, not under-representation, that accounts for the gender distribution seen in the Nobel prizes, for instance. Women are not less intelligent, less logical or less able than men. The roots of patriarchy, in other words, cannot be found in our biology.

Male supremacy, for all its ubiquity, is surprisingly recent. Theres compelling evidence that patriarchal societies date back less than 10,000 years. Humans probably evolved as an egalitarian species and remained that way for hundreds of thousands of years. One clue is in the similar size of human males and females, which show the least disparity of all the apes, indicating that male dominance is not the driving force in our species. In fact, equality between the sexes in our early ancestry would have been evolutionarily beneficial. Parents who were invested in both girls and boys (and the grandchildren from both) gave our ancestors a survival advantage, because this fostered the critical wider-ranging social networks they depended on to exchange resources, genes and cultural knowledge.

Today, hunter-gatherer societies remain remarkable for their gender equality, which is not to say women and men necessarily have the same roles, but there is not the gender-based power imbalance that is almost universal in other societies. In contemporary hunter-gatherer groups, such as the Hadza people of Tanzania, men and women contribute a similar number of calories, and both care for children. They also tend to have equal influence on where their group lives and who they live with.

Matriarchal societies may also have been more common in our ancestral communities. Strong female relationships would have helped to glue a larger community together, and being able to rely on friends to babysit would have given our ancestors the time and energy to support the group through food provision and other activities. Indeed, there are several societies where matriarchy is the norm Ive visited some of them, including the cocoa farming Bribri people of Costa Rica, and the rice farming Minangkabau of Sumatra, Indonesia. These are communities in which women are the landowners and decision makers.

In other words, humans are not genetically programmed for male dominance. It is no more natural for us to live in a patriarchy than in a matriarchy or, indeed an egalitarian society. In the same way, it is just as natural for humans to eat a paleo diet as it is to eat bubblegum-flavoured candyfloss; to have sex as a man and a woman or as three men; to live in a straw hut or in a glass bubble beneath the ocean. This is because, unlike other animals, we are cultural beings for our species, culture is our nature, and key to understanding our behaviours and motivations.

Social, technological and behavioural invention are part of our nature part of what it means to be human. We are driven by culture more than instinct. And our culture influences our environment and our genes. Our extraordinarily flexible, cumulative culture allows us to make ourselves even as we attribute our successes and failings to our genes.

Thats not to say that just because a cultural trait has emerged it is necessarily good. Patriarchal norms, for instance, are damaging to our health and our societies, increasing death and suffering, and limiting humanitys creative potential. We are, though, neither slaves to our biology nor our social norms even if it can feel that way.

Human cultural conditioning begins at birth, indeed, social norms even have an impact before birth: one study found that when pregnant women were informed of the sex of the baby they were carrying, they described its movements differently. Women who learned they were carrying a girl typically described the movements as quiet, very gentle, more rolling than kicking; whereas those who knew they were carrying a boy described very vigorous movements, kicks and punches, a saga of earthquakes.

Many of the ideas we consider universally held are simply the social norms in our own culture. Libert, galit, fraternit may be values worth dying for in France, for instance, but personal freedom is not considered important or desirable for other societies, which prioritise values such as purity instead. Consider the idea of responsibility. In my culture, if you deliberately hurt a person or their property this is considered a much worse crime than if you did it by accident, but in other cultures, children and adults are punished according to the outcome of their actions intentionality is considered impossible to grasp and therefore largely irrelevant.

The biological differences between males and females, or indeed between ethnic groups, tell us nothing about how intelligent, empathetic or successful a person is. Modern humans are 99.9% genetically identical. Although we have expanded far beyond our tropical evolutionary niche over tens of thousands of years, we have not speciated we have not even diversified into different subspecies. Our ancestors have not needed to make dramatic biological adaptations to the very different environments we live in, because, instead, we culturally evolved and diversified into a complexity of differently adapted cultures, each with their own social norms.

Children who speak Hebrew, a strongly gendered language, know their gender a year earlier than speakers ofnon-gendered Finnish

It is our cultural developing bath, not our genes, that profoundly changes the way we think, behave and perceive the world. Studies comparing the neural processing of populations of westerners and East Asians, for example, show that culture shapes how people look at faces (westerners triangulate their gaze over eyes and mouth, whereas East Asians centralise their focus). Language reveals our norms and shapes the way we think. Children who speak Hebrew, a strongly gendered language, know their own gender a year earlier than speakers of non-gendered Finnish. English speakers are better than Japanese speakers at remembering who or what caused an accident, such as breaking a vase. Thats because in English we say Jimmy broke the vase, whereas in Japanese, the agent of causality is rarely used; they will say: The vase broke. The structures that exist in our language profoundly shape how we construct reality and it turns out that reality, and our human nature, differ dramatically depending on the language we speak. Our brains change and our cognition is rewired according to the cultural input we receive and respond to.

Many of our social norms evolved because they improve survival, through group cohesion, for instance. But social norms can also be harmful. There is no scientific basis for the belief that a persons skin colour or sex has any bearing on their character or intelligence. However, social norms can affect a persons behaviour and their biology. Social norms that classify particular groups to the bottom of a social hierarchy encourage society to collude with that positioning and those people do worse in outcomes from wealth to health, strengthening the norm. A major study, by researchers at Berkeley, of 30,000 American shift workers found that black, Hispanic and other minority workers particularly women are much more likely to be assigned irregular schedules, and the harmful repercussions of this were felt not just by them but also by their children, who fared worse.

The danger of ascribing genetic and biological bases for our actions is that individuals and groups are not given equal opportunities in life, and they suffer. It is, after all, very convenient to believe that the poor are feckless and undeserving, morally weak or stupid, rather than casualties of a deeply unfair systemic bias. Equally, its much more appealing to think of ones own successes as down to some sort of innate personal brilliance rather than luck and social position.

If we persist in the idea that there is a natural a best way to be a human, then we blind ourselves to the great diversity of potential ways of being, thinking and feeling, and impose social limitations on those whose life choices are no less legitimate than ours. Its worth noting, though, that many norms that were once believed to be set in biological stone or ordained by gods have been changed by societies sometimes remarkably quickly. If we invented it, we can alter it. An accepted natural state that has existed for millennia can be changed in mere months.

Transcendence: How Humans Evolved Through Fire, Language, Beauty, and Time by Gaia Vince is published by Allen Lane. To order a copy go to guardianbookshop.com. Free UK p&p on all online orders over 15.

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Rare Male Tortoiseshell Kitten Picked Up As A Stray In The UK – Cole & Marmalade

Every cat is unique and special, theres no denying that. But scientifically speaking, a male tortoiseshell cat is very special. And why is that? Well, because the genetics that control their coat pattern also controls their gender, and those chromosomes are what causes them to be female 99.9% of the time.

But just like Jeff Goldblum said as Dr. Ian Malcolm in Jurassic Park, well

And in this case, its in the form of an extremely adorable male tortoiseshell kitten named Cresta who just so happens to be a boy. The Cats Protection Wrexham Adoption Centre is currently housing the five-month-old kitten, who needless to say found a furever home in no time flat.

So, exactly how unique is little Cresta? Well, its believed that only 1 in 3,000 tortoiseshell kittens are born male. And this little diamond in the rough was found wandering the streets of Colwyn Bay in the UK by the RSPCA.

We couldnt believe it when we discovered Cresta was a boy. Certainly none of us here have ever seen a male tortoiseshell before, and its been many years since Cats Protection has had one in care, despite us helping 200,000 cats a year.

It wasnt difficult to find Cresta a home, and his new owners realise how special he is and are looking forward to him becoming part of the family.

Male tortoiseshell interesting fact: Male tortoiseshells are usually conceived as a result of an extra chromosome being present, and are usually sterile as a result (same with male calico cats).

From humble beginnings in 1927, Cats Protection has grown to become the UKs leading feline welfare charity.

We helparound 200,000 cats and kittens every yearthrough our network of over 250 volunteer-run branches and 36 centres.

Our work doesnt stop there, however: we also provide an array of cat care information via ourpublications,help and advicesection and National Information Line; promote the benefits of neutering to prevent unwanted litters from being born and becoming the abandoned cats of tomorrow and seek toeducatepeople of all ages about cats and their care.

The Cats Protection is certainly doing their part to make the world a better place for homeless cats, and we thank them for all that they do year after year. If youd like to learn more about them, you can visit their website here.

All Images Courtesy of The Cats Protection

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Related Story: Rescue Woman Hits 1:3000 Odds When She Discovers Her New Foster Kitten Is A Male Tortoiseshell!

Related Story: Male Sphynx Cat Found To Be Experiencing Gender Transition By Accident!

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Rare Male Tortoiseshell Kitten Picked Up As A Stray In The UK - Cole & Marmalade

MUC5B Genetic Variants, Short Telomeres Linked to Greater Lung Damage, Poorer Survival in Chinese Patients, Study Shows – Pulmonary Fibrosis News

MUC5B genetic variants and shorter telomeres or chromosome endings are risk factors associated with greater lung damage and poorer survival in Chinese patients with idiopathic pulmonary fibrosis (IPF), a study has revealed.

The study, The relationship between MUC5Bpromoter,TERT polymorphisms and telomere lengths with radiographic extent and survival in a Chinese IPF cohort, was published in the journal Nature Scientific Reports.

While a better understanding of the underlying processes and risk factors that lead to IPF are urgently needed, several genetic factors have been associated with the disease.

Research points to genetic alterations, or polymorphisms, in genes that provide instructions for making telomerase reverse transcriptase (TERT) and telomerase RNA component (TERC), as possible contributors to the development of pulmonary fibrosis. In fact, according to the the National Institutes of Health, 15% of all cases of IPF are related to mutations in these genes.

TERC and TERT are responsible for making components of telomerase, an enzyme that extends DNA caps at the end of chromosomes called telomeres. These structures are very important in protecting the genome from wearing down and cells from entering an aging-like process.

Maintaining telomere length is important because when telomeres get too short, cells irreversibly stop dividing and acquire features of aged cells.

In fact, telomere shortening has been linked to increased susceptibility and lower survival in IPF patients. For this reason, scientists report that IPF is the most frequent manifestation of telomerase-associated disease.

Prior studies have also linked variations at the mucin 5B gene (MUC5B) to the risk of IPF and poor prognosis of patients. However, most of these studies were conducted in Western countries or looked at genetic variants that are rare in Asian populations.

Recognizing the need to address risk factors in Asian patients, researchers investigated the association between genetic variations in MUC5B and TERT,as well as changes in telomere length, and the extent of lung fibrosis and survival in a group of Chinese IPF patients.

In total, 79 patients (86.08% males; mean age of 64.19 years) and 200 age- and sex-matched healthy controls were enrolled in the study at the Nanjing Drum Hospital in China. The mean follow-up time was 30.36 months.

Participants were screened for five small genetic variations (single-nucleotide polymorphisms, or SNPs) rs35705950 and rs868903 in MUC5B, rs2736100 and rs2853676 in TERT, and rs1881984 in TERC.Their telomere length was also determined using blood samples.

Variations within each participant were compared with the extent of radiographic lung fibrosis seen on chest high-resolution computed tomography scans (HRCT), and with survival data. The extent of lung fibrosis was specifically measured by scoring honeycombing (clustered air spaces), an abnormal HRCT finding characteristic of IPF, used by doctors to definitively diagnose the disease.

HRCT results showed that a minority of patients (13 patients; 16.46%) had mild honeycombing (in less than 10% of the lung), while 34 patients (43.04%) had moderate honeycombing (1050%), and 32 patients (40.51%) had severe honeycombing (more than 50% of the lung).

Patients who carried one of two genetic variants CT or CC at the MUC5B promoter rs868903 or those who had shorter telomeres had more extensive honeycombing on chest scans.

After adjusting for age, sex, and smoking status, the CT/CC variants in MUC5B also emerged as a genetic risk factor for poorer survival, linked to a higher risk of death over time in IPF patients. Of note, 38 (35.44%) of the total patients analyzed died during the follow-up period.

According to the team, this is the first study to find that MUC5B promoter variations and telomere size are associated with radiological features, and that MUC5B variations were a predictive factor for the prognosis in a Chinese IPF cohort.

Further investigations are needed to determine exactly potential role of MUC5B gene in the pathogenesis of IPF, and the regulation mechanisms of telomere shortening, they added.

Ana is a molecular biologist with a passion for discovery and communication. As a science writer she looks for connecting the public, in particular patient and healthcare communities, with clear and quality information about the latest medical advances. Ana holds a PhD in Biomedical Sciences from the University of Lisbon, Portugal, where she specialized in genetics, molecular biology, and infectious diseases

Total Posts: 110

Patrcia holds her PhD in Medical Microbiology and Infectious Diseases from the Leiden University Medical Center in Leiden, The Netherlands. She has studied Applied Biology at Universidade do Minho and was a postdoctoral research fellow at Instituto de Medicina Molecular in Lisbon, Portugal. Her work has been focused on molecular genetic traits of infectious agents such as viruses and parasites.

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MUC5B Genetic Variants, Short Telomeres Linked to Greater Lung Damage, Poorer Survival in Chinese Patients, Study Shows - Pulmonary Fibrosis News

What is sex really for? – Inverse

Few topics arouse as much interest and controversy as sex. This is hardly surprising. The biological continuance of the species hinges on it if human beings stopped having sex, there would soon be no more human beings. Popular culture overflows with sex, from cinema to advertising to, yes, even politics. And for many, sex represents one of the most intimate forms of human connection.

Despite its universality, sex and its purpose have been understood very differently by different thinkers. I teach an annual course on sexuality at Indiana University, and this work has provided opportunities to ponder sex from some provocative angles, including the body, the psyche, and the spirit.

Alfred Kinsey (1894-1956) was an insect biologist whose alarm at widespread ignorance of sexual structure and physiology led him to become perhaps the first major American figure in the study of sex. The Kinsey Reports, published in 1948 and 1953, presented a highly statistical taxonomy of sexual preferences and practices. Despite draining sex of virtually all eroticism, the books managed to sell about three-quarters of a million copies.

The intellectual climate for Kinseys studies of sex had been powerfully shaped by the work of Sigmund Freud (1856-1939). Physician and founder of psychoanalysis, Freud created a model of the human psyche that placed libido or sex drive at its core and postulated that psychological and social life are powerfully shaped by its tensions with the conventions of civilized behavior. According to Freud, failure to adequately resolve such tensions could manifest in a variety of mental and physical ailments.

The stage for psychoanalysis had in turn been set by Charles Darwin (1809-1882). In Selection in Relation to Sex (1871), Darwin argued that human beings are animals, likening differences between males and females in body and behavior to those seen among species such as peacocks and emphasizing female choosiness and direct competition among males. From Darwins vantage point, and later that of Freud, even some of the most sophisticated trappings of human civilization reflect basic biological imperatives. The subject of non-heterosexual attraction requires a different account.

At first glance, sexual reproduction is a puzzle, since each member of an asexually reproducing species can produce its own genetically identical young at a lower biological cost. However, sexual reproduction allows a more rapid reshuffling of the genetic deck, increasing the probability that some individuals will be well-adapted to environmental changes. Because human beings reproduce sexually, the foundation is laid for sexual selection, the competition for mates of which Darwin wrote in such detail.

The writer Leo Tolstoy (1828-1910) presents a more broadly humanistic understanding of the purpose of sex. In Anna Karenina, often ranked as the greatest of all novels, sex provides the foundation for the family. Characters who treat sex as an adventure with no regard to family come to bad ends, while those who devote themselves to family happiness fare well. In Tolstoys view, the seemingly mundane joys of family life, made possible by sex, constitute the truest joys accessible to human beings.

Consider Tolstoys description of the life of a devoted mother, Dolly, troubled by the illnesses of her children:

Though hard it was for the mother to bear the dread of illness, the illnesses themselves, and the signs of evil propensities in her children the children themselves were even now repaying her in small joys for her sufferings. These joys were so small they passed unnoticed, like gold in sand, and at bad moments she could see nothing but the pain, nothing but sand; but there were good moments too, when she saw nothing but the joy, nothing but gold.

In the first book of Anna Karenina, two men discuss the theories of love in Platos (428-348 B.C.) dialogue, The Symposium. One of its characters, the comic poet Aristophanes, grounds sex in our desire for completeness. Aristophanes tells the story of once-whole creatures, who, because of their pride, were cut in two, creating human beings who now wander the Earth seeking completion in their other half. For Aristophanes, sex represents above all a desire for wholeness.

Augustine of Hippo (354-430), a saint in Catholicism, also subordinates sex to other purposes in human life. As a young man, Augustine had relished the pleasures of sexual life, even taking a concubine who bore him a son. Later in his Confessions, he describes his former self as a slave to his sexual impulses. He recognized that such impulses could find appropriate expression in marriage and family, but he treated his own preoccupation with sex as evil, because it prevented him from orienting his life around his ultimate purpose, God.

One of the most extraordinary books in the Bible is the Song of Songs. Unlike the other books, it does not mention the God of Israel or covenant, contains no prophecy, and does not represent a wisdom text, like Proverbs. Instead, it celebrates the mutual yearning of two lovers, each of whom waxes erotically on the others charms and the sexual intimacy they enjoy. More than any other text discussed here, this is love poetry in which lovers revel in one anothers allure and embrace.

In an era in which sex and religion are often portrayed as antagonists, it can be a bit hard to fathom the view of some rabbis that the Song of Songs represents the Holy of Holies, capturing the flow of divine love and the restoration of harmony between God and creation. Likewise, Christian interpreters have often read the Song of Songs as an analogy for the love between God and man, in which the two exist in full accord. In both traditions, sex is seen as an earthly sign of a higher union.

Today, we doctors take for granted that sex and health are linked. Sexually transmitted infections such as gonorrhea, chlamydia, and HIV/AIDS, immunization against human papillomavirus (HPV), and the health implications of pregnancy are rightly regarded as essential topics in sex education. Likewise, there is increasing interest in the health benefits of sex sex as a form of exercise good for the heart, intimacy as a way of relieving tension, and the benefits of sex for immune function and general sense of healthiness.

Yet the biologists, psychologists, and theologians of sex invite us to think more deeply about the purposes of sex. From a biological point of view, sex enables each human being to participate in the perpetuation of the species, interweaving each generation with its forebears and progeny. Psychologically speaking, sex brings us together in a way that makes 1 + 1 = 3, rendering us co-creators. And spiritually, sex serves as a rich metaphor for the union of earthly and higher orders.

How we see sex depends on our vantage point. Athletic and hedonistic perspectives offer relatively limited accounts of sex. If, on the other hand, we view sex as an opportunity to participate in something beyond ourselves, it may unexpectedly enrich our whole lives.

This article was originally published on The Conversation by Richard Gunderman. Read the original article here.

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What is sex really for? - Inverse

Meet the pigs that could solve the human organ transplant crisis – MIT Technology Review

The facility lies midway between Munichs city center and its international airport, roughly 23 miles to the north. From the outside, it still looks like the state-run farm it once was, but peer through the windows of the old farmhouse and youll see rooms stuffed with cutting-edge laboratory equipment.

In a newer building at the back of the farm, Barbara Kessler pulls off her sneakers and sprays her bare feet and hands with antiseptic. The wiry veterinarian steps over a taped line in the shower room, leaving behind everything she can from the outside world: clothes, watch, earrings. She scrubs her body and haira buzz cut, so its easier to manage these frequent washings.

After the shower, she finds her size among the neat stacks of supplied clothes and pulls on a pair of black pants, a red shirt, and black Crocs. Outside the dressing room, she adds a black knit cap to keep even her short-cropped hair from passing on germs, and then strides down the hall to the boot room, where she carefully steps into knee-high rubber boots that are power-washed after each wearing.

LAETITIA VANCON

All these precautions are to protect animals not known for their cleanliness: pigs. And once Kessler opens the door to the indoor pens, the smell is unmistakable. Its a pigsty, after all.

When Kessler unlocks one pen to show off its resident, a young sow wanders out and starts exploring. Like other pigs here, the sow is left nameless, so her caregivers wont get too attached. She has to be coaxed back behind a metal gate. To the untrained eye, she acts and looks like pretty much any other pig, but smaller.

Its whats inside this animal that matters. Her body has been made a little less pig-like, with four genetic modifications that make her organs more likely to be accepted when transplanted into a human. If all goes according to plan, the heart busily pumping inside a pig like this might one day beat instead inside a person.

Different types of tissues from genetically engineered pigs are already being tested in humans. In China, researchers have transplanted insulin-producing pancreatic islet cells from gene-edited pigs into people with diabetes. A team in South Korea says its ready to try transplanting pig corneas into people, once it gets government approval. And at Massachusetts General Hospital, researchers announced in October that they had used gene-edited pig skin as a temporary wound covering for a person with severe burns. The skin patch, they say, worked as effectively as human skin, which is much harder to obtain.

But when it comes to life-or-death organs, like hearts and livers, transplant surgeons still must rely on human parts. One day, the dream goes, genetically modified pigs like this sow will be sliced open, their hearts, kidneys, lungs and livers sped to transplant centers to save desperately sick patients from death.

Laetitia Vancon

The death of Baby Fae

Today in the United States, 7,300 people die each year because they cant find an organ donortwo-thirds of them for want of a kidney. In many cases, the only hope is someone elses tragedy: an accident that kills someone whose organs can be harvested.

Surgeons looking for another source of organs at first looked to monkeys, because theyre the animals most similar to us. In 1984, a little girl known as Baby Fae received a baboon heart but died 20 days later, after her immune system attacked it. Baby Faes short life and quick death received global attention; many condemned the idea of killing our closest animal relatives to save ourselves. An opinion piece by a cardiologist in the Washington Post described the procedure as medical adventurism. Another, in the Journal of Medical Ethics, was headlined Baby Fae: A beastly business.

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Then, in the 1990s, researchers and biotech companies turned to pigs as the donor of choice. Since we eat pigs (120 million of them a year in the US alone), taking their organs seemed less morally fraught to many. Scientifically, their organs are roughly the right size, with similar anatomy, and pigs reach adulthood in about six monthsmuch faster than primates. But a problem arose: pigs harbor viruses that might make the jump to people. Whats more, with the simple genetic engineering available at the time, the transplanted organs didnt last long when they were tested in monkeys. They were simply, genetically speaking, too foreign.

When it comes to life-or-death organs, like hearts and livers, transplant surgeons still must rely on human parts.

More than two decades later, advances in genetic engineering have revived the prospect of so-called xenotransplants. The hottest source of debate in the field: exactly how many gene edits are needed in pigs like these to overcome the species barrier. A well-funded US company, eGenesis, which leads the more-is-better-camp, says it has made a double-digit number of changes to the pigs it raises with a sister company in China.

The Germans at the Munich facility are in the less-is-more camp. The pigs they work with have three key genetic modifications originally made more than a decade agoall designed to keep baboons and humans from rejecting their organs. Knocking out a gene that produces a sugar called galactosyltransferase prevented the recipients immune system from immediately rejecting an organ from a different species. The second change added a gene expressing human CD46, a protein that helps the immune system attack foreign invaders without overreacting and causing autoimmune disease; the third introduced a gene for a protein called thrombomodulin, which prevents the blood clots that would otherwise destroy the transplanted organ.

A smaller number of edits can be better controlled and measured, and their effects are easier to document, says Eckhard Wolf, who runs this former state farm on the outskirts of Munich, now called the Center for Innovative Medical Models. If something goes wrong, as often happens in xenotransplantation, it will be clear where the issue lies. With more edits come more potential problems. At some point, you are in a situation that you have no idea what an additional genetic modification does, he says.

The size of a heart

In 2018, the hearts of pigs from the Munich center were transplanted into 14 baboons. Two of the monkeys survived for six months, the longest any animal has lived with a heart from another species. In a report in Nature last December, the German researchers described their achievement as a milestone on the way to clinical cardiac xenotransplantation.

Laetitia Vancon

Of the first five baboons to get a pig heart, four died within a day or two, and when the fifth died after a month, its heart was diseased. In the next batch of baboons, Wolfs collaborator Bruno Reichart, a retired heart transplant surgeon, flooded the organ with nutrients, hormones, and red blood cells from the time it was removed from the pig until it was fully functional in the recipient animal. Three baboons treated with this approach lived for 18, 27, and 40days.

The last five baboons had the same procedure but were also kept on an immunosuppressant drug. Two lived for 182 and 195 days, but they had to be euthanized last year when still in good health, because it was so challenging to continue the anti-rejection therapy.It isnt practical to leave an intravenous line in a baboon for longer than six months. But neither is it a simple thing to convince a baboon to take drugs. Like young children, they resist drinking anything that smells like medication.

Reichart says he is working on a better delivery system that will enable the baboons to stay on the anti-rejection drugs for at least a yearthe amount of time he says is needed to prove that xenotransplantation is ready to be tested in people.

Midway through their baboon study, however, Wolf and Reichart noticed an unanticipated problem: the hearts, harvested from juvenile pigs to make sure they were small enough for baboons, kept on growing as if they were still destined to keep alive a 600-pound (270-kilogram) pig. The transplanted heart weighed 62% more than a typical baboon heart: massive cardiac overgrowth, as their paper described it. In the baboons, the new hearts crowded out other essential organs and, in a few cases, caused the animals death.

Laetitia Vancon

At the pig facility, Kessler showed me Wolfs solution to this problem: two sister sows, created with one more CRISPR gene edit. Researchers have turned off the animals growth hormone receptor(GHR) gene, leaving them roughly half the weight of a typical pig. Both tip the scales at about 175 pounds (79 kg),compared with nearly 400 pounds for a normal sow. The pregnant sister stood across the hall, alone in a pen facing the wall. Metal bars kept her from lying down against the wallsa precaution to protect the piglet litter. Though she was bred with a full-sized male pig, roughly half of her offspring should be missing their GHR gene.

The cost of saving a life

It isnt cheap to create a gene-edited pig and then raise it to the standard required by the US Food and Drug Administration and other agencies that would regulate pig-to-human transplants around the world. Kessler and her colleagues clone pig embryos by putting the desired genetic material into eggs collected Mondays and Tuesdays from a local slaughterhouse. To minimize germs, every new line of pigs must start by conceiving the animal in a lab dish, delivering it by Caesarean section, and separating it from its mother at birth. Later germ-free generations dont require as many precautions and cost only about 10 times the price of raising a pig for bacon and pork, Kessler says.

About 120 gene-edited adult pigs and 150 piglets live on this pig farm (one of only a handful worldwide), but even it cant afford to raise pigs to the standard that will be needed before an organ is transplanted into a person. Wolfs government grant wont cover the cost of HEPA filters to clean the air in every room of the pig facility, or to irradiate the special vegetarian feed pellets that are trucked in. The researchers lobbied for years for funding to build a perimeter fence to keep wild boarsand their germsoff the property.

LAETITIA VANCON

Reichart says he just needs funding to complete one more trial, keeping baboons alive for a full year with the pigs hearts, before hell be ready to test them in people. Other groups are also getting close. In Florida, transplant surgeon Joseph Tector, newly relocated to the University of Miami, says he just needs time to build a pig facility like Wolfs only stricter, and then hell be ready to test pig kidneys in people. The University of Alabama-Birmingham has a pig facility to support clinical transplants, with experts looking at both hearts and kidneys. Their first clinical trial of xenotransplantation might be in babies born with congenital heart malformations. A pig heart could serveas was hoped for Baby Faea bridge until they can receive a human heart.

Reichart says he doesnt need to be the first to successfully do a xenotransplant. But he believes hes likely to be among the first, since hes so close. After decades of research, the pigs in the Munich lab just might be the ones that allow surgeons to break the species barrier.

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Meet the pigs that could solve the human organ transplant crisis - MIT Technology Review

Ruanne Vent-Schmidt: The blind and visually impaired can help researchers by getting their genes tested – Vancouver Sun

Fighting Blindness Canadas secure, clinical patient registry is a database dedicated to connecting people living with retinal eye diseases to clinical trials and research.Paffy69 / PNG

Blind and partially sighted people no longer have to wait passively for a research breakthrough in hope of treatment options. In fact, people living with genetic eye conditions can now actively drive vision research forward by enrolling in a patient registry and getting their genes tested.

There are 2.2 billion people living with visual impairment globally. Some are living with inherited retinal diseases that are progressive and can lead to complete blindness. Up until recent years, blind and visually impaired people were told that no treatment is available. This is changing as genetic testing is paving the way for a surge of gene therapies.

My doctoral dissertation at the University of B.C. was on drug therapy for retinitis pigmentosa. This progressive, blinding eye condition is the most common type of inherited retinal disease.

In people affected by retinitis pigmentosa, the light sensing cells in their retina photoreceptors die early. Unlike skin cells that regenerate, the body does not make more photoreceptors once they are damaged.

As a vision scientist affected by retinitis pigmentosa, I am passionate about finding the truth about the disease. Why do photoreceptors die? How can we stop it? How can science and medicine help?

When I was 12 years old, I realized while at summer camp that my night vision was disappearing. In the last two decades, I lost my peripheral vision, contrast sensitivity and depth perception.

I worked in Dr. Orson Moritzs lab at the UBC department of ophthalmology and visual sciences, which focuses on research using tadpoles that contain known human mutations for retinitis pigmentosa to understand the disease.

I made an alarming discovery in our animal model: knowing the genetic cause of retinitis pigmentosa is vital for treatment with one class of drugs histone deacetylase inhibitors. These determine how genes are switched on or off.

A similar study in mice showed that the same drug reacted differently to variations in a single mutant gene that also causes retinitis pigmentosa.

Treating retinitis pigmentosa is like extinguishing fire. To stop a fire, you need to know whether its water-based or grease-based. If you try to use water to stop a grease fire, the damage gets worse.

Blind and visually impaired people can advocate for eye health by enrolling in a patient registry. Participation in a registry benefits researchers by offering more information about the disease.

In Canada, individuals can self-refer to Fighting Blindness Canadas secure, clinical patient registry. This database is dedicated to connecting people living with retinal eye diseases to clinical trials and research.

When a gene therapy trial arises, researchers draw participants from this database. Since gene therapy aims to correct an underlying genetic mistake in DNA that causes disease, knowing the genetic cause of a disease is a criteria for most gene therapy trials.

Globally, other registries include My Retina Tracker in the United States, Target 5000 in Ireland, MyEyeSite in the United Kingdom, the Australian Inherited Retinal Disease Registry and Japan Eye Genetics Consortium. In New Zealand, Dr. Andrea Vincent has established the Genetic Eye Disease Investigation Unit. There is even a Blue Cone Monochromacy Patient Registry for one rare eye condition.

In the last two decades, the number of gene therapy trials has blossomed. Currently, 250 genes on inherited retinal diseases have been identified. In 2017, the first gene therapy for inherited retinal disease Luxturna was approved by the United States Federal Drug Administration.

To date, there are trials for: retinitis pigmentosa; Usher syndrome, a condition that involves hearing and vision loss; achromatopsia, a disease that causes colour blindness; X-linked retinoschisis, a dystrophy that causes splitting of the retina and affects mostly in males; and age-related macular degeneration, the third-largest cause of vision loss worldwide, caused by the interplay between genetics and environment.

Enrolment in a patient registry and genetic testing advance the design of gene therapy trials. This in turn benefits blind and visually impaired people.

Research advancement is a concerted effort across the globe blind and partially sighted people should know they have the power to push it forward.

Ruanne Vent-Schmidt is a PhD candidate in cell and developmental biology at the University of B.C.This article originally appeared online at theconversation.com, an independent source of news and views, from the academic and research community.

Letters to the editor shouldbe sent tosunletters@vancouversun.com.

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Ruanne Vent-Schmidt: The blind and visually impaired can help researchers by getting their genes tested - Vancouver Sun

Norse of the Week: Tyler Sefried (’20) – Luther College Chips

Tell me about your football career.

I started playing when I was eight years old. Ill have been playing for 15 years by the end of the season. Collegiately, I played JUCO, or Junior College, before I came here, which was really successful. We were a super good team, nationally ranked at American River College. I redshirted my freshman year there, and my second year I got injured. My third year wasnt a bad year, but a guy whos now at USC played ahead of me, so I didnt have the greatest success. After my third season, I was considering giving up because I had barely played the last season. Luckily, Luther had a recruiter that would not give up. He was super persistent. So I said, screw it and came out here for a visit. I came legitimately wanting to hate this place, and it slowly just won me over. That was over a J-term, and I committed the next day. I went from living in Sacramento with a job to moving out here within two weeks.

Describe your role on the team.

As a captain, my impact is just like being a big brother to a lot of the guys, especially because we have a really young team. The majority of our roster is freshmen and sophomores, with few juniors and even fewer seniors. I always preach that players play, coaches coach. Its not our job to chew guys out, as I see it. Trying to lead by example, doing all the right things, so guys can have a reference for how they should carry themselves.

How do you prepare for games?

Obviously, we practice every day as a team. But for me personally, Friday nights I try to settle in. Look over our notes from meetings. We always have a quiz to complete. I like to imagine myself in the game and create a mental image of myself in there, going through good and bad scenarios. On the actual game day, I just have laser focus. I dont look at social media. I send out a thank- you to people saying good luck, but other than that I dont do anything but focus. About an hour before the game, I get super intense and create a small goal for myself. Five tackles or a sack, something like that.

Do you usually accomplish your goals?

Depends on the game. Usually my bare minimum goal is five tackles and a sack, and if I get one or the other then Im happy. Then Ive had bad games as well. When those happen, the most important thing is that I gave it my all. Thats the one thing I care about more than anything. My position isnt super glorious, and when I do make a tackle its cool because I had to fight off a big, fat offensive linemen. If I do my best, I can live with it.

What are your thoughts on this season so far?

For our team, its been disappointing. Nobody likes losing. But we have a lot of room to grow. As I said, we have a lot of young players that are developing mentally and physically. Moving forward for the next few seasons, its gonna get better and better. If they do the right things, they will do big things in the future. For myself moving forward, we only have about three games left and this is my last season. My ultimate goal is to finish strong. I dont want to look back and say, man, I should have worked harder. When I dont work my hardest, it eats at me. When I was at JUCO, I almost gave up. Luckily, I was given this opportunity to finish strong here, and thats what I want to do. Win or lose, I just want to finish strong.

How has the team grown since you arrived at Luther?

We have a very young team, and Ive seen a few players step up and go in the right direction. Ive also seen young players with a lot of room to grow, which is okay since they have time. I thought our camp was much better this year in terms of keeping the game as the focus. Theres improvements and growth, but it will take time for it to show.

What are you looking forward to during the rest of your time at Luther?

Im looking forward to enjoying myself as a student for once. Ive played since I was eight, and I dont think Ive ever had a moment where Ive never played a sport before. With our next semester, I wont have that football commitment. It wont be easier, but it will be an interesting feeling. Itll be sad because I wont be doing what I love, but Ill get to experience something new and Im excited for that. Because I was a transfer, I have a bunch of freedom for what I can take, so Im very excited for that. Im excited to get involved in new things, as Im now freed up to do a little more.

Who is an athlete you look up to?

Theres a guy I played in JUCO with, and he recently got signed by the Carolina Panthers. Hes a linebacker, and his names Jordan Kunaszyk. We werent super close, but I knew him pretty well. He was a captain at my JUCO, and I admired the way he carried himself and his work ethic. A lot of the times when people talk about college athletics, they talk about genetics. He had a solid frame, but his work ethic alone is why hes at where hes at. And he made the actual team. He didnt get cut and he plays. His accomplishments and his work ethic are what I admire.

Whats a fun fact about yourself that isnt related to football?

I have club thumbs and people say they look like toes.

Photo courtesy of Luther FootballSefried hails from Lodi, CA.

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Norse of the Week: Tyler Sefried ('20) - Luther College Chips

Oklahoma news anchor diagnosed with breast cancer after streaming first-ever mammogram on Facebook Live – msnNOW

KFOR via Fox News An Oklahoma journalist who chose to air her first-ever mammogram on Facebook Live last year was subsequently diagnosed with breast cancer, she said.

In October 2018, Ali Meyer, a reporter with Oklahomas News 4 (KFOR), chose to live-stream her mammogram because I thought it might remind some women to schedule theirs, she wrote in an essay posted to the news stations website.

When the day of her appointment arrived, I had no concerns, Meyer, 41, wrote. No lumps; no family history; no reason at all to think that my baseline mammogram would turn my world upside down.

But to her shock and dismay, Meyers mammogram results were abnormal.

Local radiologist Dr. Richard Falk, with the University of Oklahomas Breast Health Network, found cancerous calcifications in the reporters right breast, she said. More specifically, she was told she had non-invasive ductal breast cancer.

I will never forget that day. I will never forget telling my husband, my girls, she wrote.

One day after her diagnosis, Meyer took to Facebook Live to share the news.

This has been hard and shocking. It does rock you to your core, she said, according to KFOR. You guys have been really supportive and I appreciate it so much. This is not the news I was hoping to tell you about to raise breast cancer awareness.

Meyer, who was only 40 at the time of her diagnosis, did not have any genetic mutations that could explain why she developed breast cancer at such a young age.

Meyer later underwent a right side, skin and nipple-sparing mastectomy.

Even though [the] surgery was my choice, it felt like forced mutilation, she wrote in the essay. It felt like cancer was stealing part of my body away from me.

Luckily, because of how early her breast cancer was detected, Meyers prognosis was good.

"We found this when it was not invasive and not a mass when you are most likely to be completely cured and go on with a normal life," Falk told Meyer for the essay.

Meyers surgery was a success. Now one year later, she is cancer-free.

"I will never stop having mammograms, she wrote. I will never stop telling women to take care of their bodies and schedule their mammograms."

"This year I had my second, annual, 3D screening mammogram, she continued. I am thrilled and relieved to tell you my mammogram was clear, showing no signs of breast cancer.

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Oklahoma news anchor diagnosed with breast cancer after streaming first-ever mammogram on Facebook Live - msnNOW

4 Tips For Growing Your Moustache This Movember – Men’s Health

Pick your products

The first few days, and even weeks, of moustache growth can be reminiscent of your pre-pubescent peach fuzz but persistence and the right products can help.

"No product is really going to help you grow a moustache quicker, but definitely taking care of your skin and your hair will promote natural growth," Fraser says.

Plus, using a good beard oil can also help you resist the itch that comes with growing facial hair.

"For the first 10 days of growth, your hair is actually sucking all the nutrients and essential oils out of your skin, so that's where the dry skin and all that itchiness comes from," he exaplins. "We actually refer to that as beardruff."

Don't be afraid to ditch the razor and go semi-caveman in the first stages.

"I definitely think for a moustache to look better when it's starting to grow out, you would grow your moustache, but then you'd grow a little bit of shadow under your bottom lip and also maybe on your chin, and then as that moustache starts to get a bit of length to it, then you could take your chin and the bit under your bottom lip a lot shorter. That'll make it look a lot more appealing."

Once your whiskers have settled in, it's time to trim. Fraser reckons around the second week mark for most Movember participants.

"I definitely recommend growing it until the 15th, at least, so a good 10 to 14 days growth, and then you would look at trimming up your lip line," he says.

"That's the most important part to any guy with a moustache, because as soon as it gets past your lip line, it becomes really annoying to eat or even just talking, you can feel these little pricks. Or with your partner, if you kiss your partner or anything like that you can get little sharp bits."

While upkeep can help, how your mo grows is pretty much out of your hands.

"At the end of the day, it comes down to genetics, which some people can't help," Fraser says.

If your handlebar is looking more like facial fur don't waste your time with potions and promises. Just wear your whiskers with confidence because whatever you grow will save a bro.

The Movember movement is taking on major men's health issues like prostate cancer, testicular cancer, mental health and suicide prevention. Your help in spreading awareness and raising money goes a long way in helping change the face of men's health. Literally.

emember the importance of what the message is, and what you're doing it for," Fraser says. "It's great that there's a bit of humour behind it and everyone has a bit of a laugh with the different moustaches created over the years for Movember, but at the end of the day, the underlying message is that we're doing this for a reason and for a charity so stick it out."

Head here for more information about Movember and how you can get behind the cause.

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4 Tips For Growing Your Moustache This Movember - Men's Health

Researchers develop new test to diagnose the genetic cause of autism – Medical Device Network

Murdoch Childrens Research Institute (MCRI) in collaboration with Lineagen, a Utah-based diagnostic genetic testing and clinical information services company, has developed a new test, called Methylation Specific Quantitative Melt Analysis, for the more accurate and timely diagnosis of Fragile X syndrome.

Fragile X syndrome is a common genetic cause of intellectual disability and autism spectrum disorder.

This syndrome impacts about one in 4,000 children. Approximately 90,000 Australians and over one million Americans are impacted in some way by this syndrome.

A large section of these are women who may not be affected with Fragile X, but carry a DNA premutation in their FMR1 gene, which then impacts their children.

One major problem with Fragile X is that this syndrome is not clinically identifiable at a young age. An average age of diagnosis in Australia is about five years, while in the US, it is over three years, according to the Centers for Disease Control and Prevention.

Due to delayed diagnosis, impacted children often do not receive the medical care they need in time.

MCRIs associate professor and lead researcher of this international study David Godler said: The impact of delayed diagnosis is significant and potentially preventable not only to the families but also for our health system. This is why we developed our new test, called Methylation Specific Quantitative Melt Analysis (MS-QMA). This is a one step process, to assist in more accurate and timely diagnosis of Fragile X in affected children referred for genetic testing.

This one-step process looks at the number of chemical modifications or marks, called methylation, added to a patients FMR1 gene in Fragile X, that are not usually found in typically developing children without the syndrome.

An increase in these marks cut down the production of a protein called FMRP, which is needed for healthy brain development and function.

For the first time, this study shows that the number of these marks can be increased, even in people without the usual genetic changes seen in Fragile X syndrome (called CGG repeats).

Previously, this was not known, partly as the present standard testing does not involve looking at these marks as part of the initial CGG screen.

The existing regular testing examines these marks through a second separate test, and only on the restricted number of patients suspected with the typical genetic change (CGG repeats) linked with Fragile X, called full mutation, and large permutation alleles. A reason for this is because the second methylation test is expensive.

For this trial, Lineagen and MCRI compared DNA test results of over 300 patients from paediatric clinics in the US and Australia.

As per standard testing, these patients either had Fragile X mutations or did not have mutations.

Although the second group of patients had no Fragile X mutations diagnosed by standard CGG repeat testing, they were diagnosed by doctors as having a kind of intellectual disability with/or without autism.

The genetic testing was performed in associate professor Godlers laboratory at MCRI using MS-QMA on male and female samples blinded by Lineagen.

With the lifting of the blind, all male and female patients with known Fragile X diagnosis received exact diagnosis using MS-QMA.

Godler said: We also identified, for the first time, smaller more common FMR1 alleles that are not usually tested for methylation (a tell-tale sign of Fragile X), that had abnormal methylation signatures in a significant number of affected patients.

These abnormal signatures were confirmed to be present by the current standard confirmatory methylation test performed by Lineagen. These signatures may compromise function of the FMR1 gene, and potentially lead to Fragile X like clinical features, and is an active area of research for my group.

Contribution to the findings also came from researchers of the University of Melbourne, Victorian Clinical Genetics Services, Genetics of Learning Disability in Newcastle, and The Royal Childrens Hospital.

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Researchers develop new test to diagnose the genetic cause of autism - Medical Device Network

Utah researchers discover link between certain brain cells and anxiety, OCD – KSL.com

SALT LAKE CITY Mental health is blamed for a lot of issues plaguing society these days, but scientists and biologists still know very little about whats happening inside the brain that brings on problems in certain people.

A group of researchers at the University of Utah, however, may now have a clue.

Theyve identified a link between a group of specialized brain cells, called Hoxb8-lineage microglia, and obsessive compulsive disorder and anxiety in mice.

Similar to humans, female mice are more susceptible to the anxiety-related diseases, though symptoms were observed in male mice, too. The discovery could lead to the development of drugs better suited to treat and/or prevent anxiety and OCD.

It opens up a new avenue for thinking about anxiety, said Dimitri Trnkner, a lead author of the study and assistant biology professor at the U. Since we have this model, we have a way to test new drugs to help these mice and hopefully at some point, this will help people.

The findings suggest a link between biological sex hormones (estrogen and progesterone) and genetics, two major risk factors for anxiety-related disorders in humans, according to the study published this week in Cell Reports.

Until now, it was unknown whether this subset of microglia, which play a crucial role in brain development in the womb, had any other function at all. The new findings build upon previous mice studies conducted by Nobel laureate Mario Capecchi, also a lead author in the new research.

Capecchi had long suspected this subset of microglia was special in some way, but researchers didnt pick up on certain behaviors related to anxiety, such as overgrooming, until this time around its the first study to describe the role of microglia in OCD and anxiety in this way.

We didnt really know what to make of the fact that mice without Hoxb8 appear so normal, until we noticed that they groom significantly more and longer than what would be considered healthy, said Capecchi, a distinguished professor of human genetics at the U.

To test whether sex hormones drove OCD and anxiety symptoms, Trnkner and his colleagues manipulated estrogen and progesterone levels in the mice. They found that at male-levels, the OCD and anxiety behaviors in female mice resembled the male response, and at female hormone levels, the OCD behaviors in male mice looked more like the females severe symptoms, and showed signs of anxiety.

Scientists want to help these people to get their lives back.Dimitri Trnkner

We have a good understanding of how anxiety is produced in people, but cannot do experiments in people, Trnkner said. Of all models, I have great faith that mice are one of the best models, as they are so similar to people.

He said some of the mice had significant hair loss, were more easily stressed out, or lost their natural fight-or-flight response mechanisms without the protective presence of the microglia in their brains.

It shows that the two phenomena are related.

Researchers have long suspected that microglia have a role in anxiety and other neuropsychological disorders in humans because this type of cell can also release substances to harm neurons.

Its surprising to see that (the microglia) are not causing it, but they can protect from it, Trnkner said, adding that researchers and biologists now have an explanation as to why anxiety-related diseases are more common in women.

This news should give hope ... for many reasons, he said.

Science has long tried to find solutions for people who deal with the life-altering mental illnesses, and Trnkner said this puts everyone that much closer to new drugs to treat them, particularly anxiety.

Scientists want to help these people to get their lives back, he said.

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Utah researchers discover link between certain brain cells and anxiety, OCD - KSL.com

Sexed semen: Why is it not there yet? – Agriland

One thing that had been brought up time and time again, as a potential answer to the flood of male dairy calves coming from the expanding dairy industry, is sexed semen.

Again during an IFA discussion held in The Hotel Kilmore, Co. Cavan, last week the topic of sexed semen was brought up by farmers and discussed by both the Irish Cattle Breeding Federation (ICBF) and Teagasc.

Speaking at the event, Teagascs Dr. Pat Dillon the Head of the Animal and Grassland Research and Innovation Programme agreed with farmers that progress needs to be made on a sexing lab in Ireland as currently, there is none. He said:

We tried to fly the semen over to England to be sexed and it was a disaster. The conception rate was a disaster. So, the lab has to be in Ireland.

He also stated that he feels farmers are underestimating the benefit of sexed semen because they are getting a dairy calf versus a beef calf which, he said: Is of no value.

I think if we can solve the conception rate, it is a no brainer for all dairy farmers to use it; because of the relative difference between what a good dairy calf is worth last year they were worth about 250 and what a male calf is worth.

The differential is big, if the technology works, he added.

While going on to saythat 24% of semen used by dairy herds in the UK last year was sexed and in Denmark, from 2021 only sexed semen will be allowed to be used on Jersey cows.

However, he said that the issue Teagasc has found, with sexed semen, is around the handling of the semen. He stated: The handling is going to influence the performance of sexed semen.

Also shedding some light on the issue, Sean Coughlan, CEO of the ICBF, said: The challenge is we dont have a lab in the country. So, if you want to get significant volumes of semen from bulls you have to ship them to the UK.

That is an expensive process and the AI companies are not fully sure that there is a market for the semen, should they do that. So, there are significant logistical and financial challenges there at the moment.

Responding to the question: Why are the best bulls not being sexed? he said: The actual sexing process costs the same per straw. But, the number of straws you get is three or four times more for conventional semen, than it is for the sexed semen.

So, there is an opportunity cost on the AI companies. One jump from a bull will get between 200 and 250 straws for sexed versus four times as many for conventional.

Another challenge he mentioned was, because sexing cost more than conventional, the cost of discarding those straws if the bull drops or if there is no demand for that bull, is an issue.

That is why there has to be a broader industry solution to the sexing problem; the AI companies cant necessarily do it on their own, he added.

Pat reiterated this, when he said: The AI companies will not send their top bulls over to England to be sexed, in case they cant bring them back.

Aswell, he also agreed that the best genetics need to be available to farmers.

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Sexed semen: Why is it not there yet? - Agriland

The Patterning Table That Changed My Life – The MIT Press Reader

When my sister suffered from Rett Syndrome, an old patterning table and a dubious therapy brought my community together and offered hope.

By: Adriana Knouf

For more than two decades, Sherry Turkle has challenged our collective imagination with her insights about how technology enters our private worlds. The moving essays in the The Inner History of Devices, edited and introduced by Turkle, bring together writings about devices that come supplied with sanctioned ways of understanding them objects ranging from cell phones to prosthetic eyes, from televisions to dialysis machines. By taking time to go further, its authors reveal how what we make is woven into our ways of seeing ourselves, often finding what they did not know they were looking for.

In Adriana Knoufs essay, featured below, a medical device, in its presence and absence, allows her to dream. Faced with her sister Robins illness the gravely debilitating Rett Syndrome Knouf and her family learn of a technique that offers some hope. The family moves Robins limbs rhythmically in crawling and walking movements on a specially built patterning table. While Robin lives, Knouf is immersed in the community around the table. After Robin dies, the tables absence opens a reflective space for Knouf to consider how it shaped her life. With Robin, says Knouf, the volunteers, the discredited therapy method, and the patterning table, we had tried to awaken cognition with care, with the soft sheepskin, the men and women gathered around. But the table has stood in the way of many things, and it takes her time to find her way after Robin and the table are gone. With loss, Knouf is able to re-integrate the past.

Our basement walls were covered with charts, schedules, and sets of instructions. In the southeast corner stood the patterning table. Made when I was eight years old by a friend of the family who lived in a nearby town, the patterning table came up to my chest. Supported on its four corners by thick wooden legs attached with massive bolts, the highly varnished table was strong enough for a 50-to-80 pound person to be moved around on its flat surface. That surface was padded with Naugahyde, which in turn was covered by sheepskin that fitted snugly around the edges.

At this table, every Monday through Saturday, three people (five, if we were training new volunteers) surrounded my sister, Robin. We gently took hold of her fragile arms, legs, and head. With a regular rhythm we moved her extremities in the motions of a crawl: one, turn the head to the left, bring the left arm away from the body and next to the head, bend the left leg next to the torso, and vice versa for the right side; two, keep the head where it was, pull the right arm back next to the body, extend the left leg, and vice versa for the right side; three, repeat as one, but switching left for right; four, repeat as two, but switching left for right. One, two, three, four, the count continued over the course of five minutes, and the patterning session was done, for this hour. The ding of a kitchen timer told us it was time to move on. Next hour we repeated it, on the same table with the same sheepskin cover, with different volunteers. All day this continued, according to the schedules, instructions, and charts that my mom wrote in thick strokes on butcher paper and taped to our recently sheetrocked basement walls. Patterning was combined with breathing exercises, using a mask designed to increase the blood flow to Robins brain.

When I was in first grade Robin was diagnosed with Rett Syndrome, a rare neurological disorder that may include devastating mental and physical symptoms. It afflicts only girls, most of whom are not expected to live past their 18th birthday. The girls often make rocking motions while sitting, wringing their hands. Many are able to develop some basic level of functioning, such as simple mobility or being able to feed themselves. Robin, however, could do none of these things; she was utterly dependent on us. Even so, there were still the smiles, tears, and frowns of any young girl, and in her eyes you could see thoughts she could not speak.

There were still the smiles, tears, and frowns of any young girl, and in her eyes you could see thoughts she could not speak.

Robins disease led our family to take on a major commitment: a full-time, in-home physical therapy program. Our location, rural Iowa, meant we had to develop everything ourselves. To build the equipment, to schedule the people who came in on a regular basis, week after week, we found volunteers, some local, some from afar.

The patterning table took up a good part of our basement, but at a certain point during Robins therapy we set up another apparatus for her, a jungle-gym-like contraption made by the same volunteer who built the patterning table. The new contraption reached from the floor to our seven-foot ceiling. The height of the jungle-gym bars was adjustable. At certain times the overhead bars were low enough so that Robin could walk her hands along them. When she was stronger, the bars were raised and Robin had to grab onto freely swinging handholds of thick nylon rope that hung from the bars; she wore specially designed Velcro footies that stuck to our short-pile institutional carpeting. The resistance from the Velcro was meant to make it harder for her to lift her foot, while the swinging rope was meant to improve her sense of balance. It was hoped that this would strengthen Robins legs and upper body in preparation for walking on her own.

Our work at the patterning table was based on the Doman-Delacato method. It laid out a series of therapies designed to help brain-damaged children toward better functioning. The method is based on an evolutionary metaphor: The individual develops in their lifetime just as the human evolved over generations. That is, development begins at the fish and reptilian stage (crawling) and moves through to mammals and primates (creeping, with the stomach off the ground). Doman-Delacato reasons that if you pattern a brain-damaged child with the motions that are involved in each of these stages, you will unlock the later stages of development. So the repetitive motions on the patterning table were supposed to teach Robins muscle memory to crawl. Yet she never was able to crawl on her own: She learned only to walk a step or two, lightly aided.

The Doman-Delacato method reasons that if you pattern a brain-damaged child with the motions that are involved in each of these stages, you will unlock the later stages of development.

The Doman-Delacato method has not found empirical support, and the American Academy of Pediatrics has issued a number of warnings about the technique over the years. As a child I never questioned our program. To me, it seemed natural that if we moved Robins arms and legs in a certain manner, we eventually would train her brain to move body parts on its own. And of course my parents, like so many others, seized on the programs marketing and the bits of anecdotal evidence that suggested it worked. The Doman-Delacato method provided hope, but I think back on it now with sadness, regret, anger, and resignation.

Robin began to experience seizures when I was in fifth grade, not unusual for Rett girls who often regress from their developmental plateau. I remember the huge stuffed rabbit that lay on the table the day Robin was rushed to the hospital because of her first, unexpected seizure. The seizures made it impossible to continue with the treatments on the patterning table. Yet the patterning table remained in the basement. We removed the sheepskin, and then the Naugahyde quilting, and used the table as any other flat surface, a place to store papers, books, and mail. Gradually the schedules and charts on the butcher-block paper began to come off our walls, but the patterning table remained, a reminder of what we had done, of what we had tried to do.

Even as a young child, I read the few journal articles our family had about Rett Syndrome. They were over my head, but I persisted in my efforts to figure out what was going on with my sister. I launched into my parents popular science book on genetics. A year or two before I took any proper biology class, I was discovering genotypes, phenotypes, and karyotypes, the genetic bases of diseases such as sickle-cell anemia and Parkinsons. At the time, the Human Genome Project was in its nascent stages and the hope for miracle cures was strong. With the insufficient knowledge I had, and bolstered by the arguments in the genetics book, I believed that finding the gene or genes that caused her disease would lead immediately to gene therapy that would reverse Robins genetic malfunction. Of course you had to have a way to get the genes into the cells, so I eagerly read about techniques to force the existing chromatin to take up new genetic materialretroviruses and exotic electro gene therapy. Then came the problem of how to reverse the damage in existing cells. Neuron regrowth in the brain is meager at best; there, repairing genes would not be enough.

The Doman-Delacato method provided hope, but I think back on it now with sadness, regret, anger, and resignation.

As a middle school student growing up with my sister, I thought these problems surmountable. And I determined that all of this would be my doctoral work: I would find the gene that caused Rett Syndrome and discover the necessary therapies to cure the disease. It was merely a matter of time. The summer before high school, I enrolled in a summer program in molecular biology at the state university, a first chance to work with the tools I had read about: restriction enzymes, plasmids, and ethidium bromide stains. I was in the throes of passion: I pored over books I could not understand; I persuaded other students to work unattended in laboratories full of dangerous reagents. I was in a hurry.

But Robin died in the fall of 1993, just short of her ninth birthday. I sunk into a world of grey and black, my schoolwork the only thing that kept me going. I remember the rush to finish assignments in my high-school biology course that were late because of Robins funeral and the time I took off after her death. I remember the fleeting thought that if I could complete my work faster, I could start college early and be on my way to finding the cure for other Rett girls.

I went to Caltech as an undergraduate to study molecular biology with one sole objective in mind: to find a cure for Robins disease. In high school I had performed in a chamber music group and had notions about attending a conservatory. I devoured literature and thought about being an English major and studying philosophy. But now, stronger than all of these were my memories of Robin and the patterning table. I was driven to discover the gene for Rett syndrome. I saw it as an achievable goal.

Then, on a gray California winter day during my sophomore year, I read that a group of researchers had discovered the gene responsible for Rett Syndrome. I posted the article outside my room. I told all of my friends. I wanted to be among the people in the article. But there was more work for me: turning the genetic discovery into a treatment for Rett patients. Soon after, experience as a research assistant convinced me that I was not suited for the biology workbench. I moved toward cognitive sciences, with its higher-level descriptions of perception, action, and emotion.

The patterning table, long unused even during Robins life, was finally removed from our basement, probably passed on to another family using the Doman-Delacato method. Its absence left a space. I had passed the patterning table and its volunteers in the early morning; I had looked toward it when I came home from school; I had walked to it when it was my turn to be part of the group that moved Robins head, legs, and arms.

The table was more than a focus for our thoughts; it anchored our love for Robin and the energy we put into giving her a future.

Without the steady presence of the table, where would we turn? Where would our efforts be channeled? Without Robins influence, what would be our purpose? The table was more than a focus for our thoughts; it anchored our love for Robin and the energy we put into giving her a future. Like the tables in traditional Midwestern churches or cafes, the volunteers who assembled chatted and gossiped and spoke about their lives. It brought Robin into a community. When Robin was happy and obedient, her attendants gave her praise; when she was cranky and ornery, they understood, but lightly scolded. The patterning table made life coherent, all of a piece. With Robin, the volunteers, the discredited therapy method, and the patterning table, we had tried to awaken cognition with care, with the soft sheepskin, the men and women gathered around.

I originally wrote this in 2005, and in the interim there has been a tremendous increase in research on Rett Syndrome in light of the gene discovery. I have moved away from cognitive science and into media arts and design, yet I still draw upon the scientific, social, and emotional experiences written about here in my work. Finally, this was written from the perspective of an assigned-male-at-birth person, however I have recently come out as a transgender woman. The experiences with Robin, the volunteers, and my family have all contributed to making me the woman that I am.

Adriana Knouf is an Assistant Professor of Art + Design in the Department of Art + Design in the College of Arts, Media, and Design at Northeastern University in Boston, MA.

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The Patterning Table That Changed My Life - The MIT Press Reader

Utah hemp farmers find success and struggles in their first year of growing – Salt Lake Tribune

Spanish Fork Jud Harwards first hemp crop dangles from his hay barn rafters, drying as it saturates the air with an eyebrow-raising cannabis aroma.

Though he hasnt sold much of it yet, the Utah County farmer is proud of how his 10-acre experiment turned out. Paging through pre-harvest cellphone photos, he shows off his neatly lined plants, some with stalks soaring above shoulder-height and crowned with what he calls the filet mignon of hemp buds.

As part of Utahs industrial hemp vanguard, he relied mainly on his instinct to coax the temperamental crop into flourishing. Little guidance was available, and there were few examples to follow. He was never sure if he was doing it right or wrong.

Its on the fly, says Harward, whos been farming sweet corn and hay for decades. Every day was new.

This legal sea-change coincided with the rising popularity of cannabidiol, or CBD oil, a hemp extract marketed for numerous purported health benefits and beautifying properties. The craze has spawned everything from CBD deodorant to CBD hamburgers, and with estimates that the U.S. market could grow to $20 billion by 2024 some Utah entrepreneurs saw a hemp license as a golden ticket.

In a time of financial struggle for farmers, some in Utah ripped up their hay fields and tossed out their lettuce plants to replace them with the new cash crop. David Lee, Harwards partner in the hemp venture, said hes heard of people mortgaging their farms for funds to get in on the business.

But any get-rich-quick hopes rapidly faded, and Harward said some threw in the towel because of crop failure. Three hemp cultivators separately said it felt like theyd strayed into the agricultural Wild West where reliable information was hard to come by and sketchy consultants and suppliers ran rampant.

They saw an opportunity and some doe-eyed entrepreneurs here in Utah, said Tom Paskett, executive director of the Utah Cannabis Association.

Ruston Peterson has grown hydroponic lettuce out of a greenhouse in Annabella for about a decade. Without a local market for his greens, hes had to drive most of his produce to Salt Lake City for sale, a commute that became tiring.

So, earlier this year, he decided to try his hand at industrial hemp. He shut down his lettuce operation in about a week and began growing hemp starts for a larger cultivator south of him.

People assured him that the cannabis plant is a weed and would grow anywhere. Peterson, along with many others, was about to have a different experience.

There are tons of ways to lose at this game, he said. And everybody, I think, found that out this year.

Some growers, he said, just saw money in their eyes and were victims of their own zeal, determined to plant even though theyd already missed the growing window. And even for people who did everything by the book, nature took its toll, with withering heat stunting one of Lees hemp grows in southern Utah and a September frost claiming plants in fields near Harward Farms.

And then there was the states mandated pre-harvest test to make sure the hemp plants didnt contain an illicit amount of THC, the psychoactive compound in marijuana.

The states Department of Agriculture and Food ordered the destruction of 16,323 plants this year after finding theyd tested hot, or above the 0.3% limit. While that was less than 1% of the states total harvest, the department estimates, it was a setback for the farmers who lost their expensive plants.

Its absolutely doable,"Rigby said. "But is it easy? No.

The difficulty in distinguishing hemp from marijuana, which look and smell the same, also created confusion for local police and passersby at the states hemp farms.

Michelle Finch, a hemp grower for Hansen Plants in Benjamin, said she found people snooping around her greenhouse, drawn by the cannabis scent. And Harward said he had to erect signs around his hemp crop to ward off thieves, who he suspects were passing off the plant as marijuana to gullible buyers.

For the states experienced farmers, cultivating hemp wasnt like growing hay or corn or wheat or anything that they were used to. The cannabis plants were finicky.

You have to be there. You have to baby it, Peterson said.

In Harwards case, he decided to spoon feed the hemp plants fertilizer. He sprayed molasses on them to give them a kick of sugar. And he and other farmers painstakingly harvested them by hand rather than by machine. Learning the ins and outs of the crop was no simple task because, in the nascent and chaotic industry, the farmers didnt know who they could trust.

"There's a lot of crooked people," Harward said. "Rip 'em off Ralph kind of guys."

Paskett said hes also heard from a number of farmers who complained they were taken for a ride by consultants or hoodwinked by out-of-state seed banks. Its possible that some cases could lead to legal action, he said, but thats a heavy lift for farmers who are already financially underwater because they took out a loan to buy seeds.

His group is stepping in to advocate for hemp farmers in some of these situations and has done some investigating and vetting of these suppliers.

We dont want these farmers who took the leap of faith and then got hosed to wash their hands and be done with it forever, he said.

The consequences for picking the wrong business partner can be disastrous, according to farmers.

Hemp plants carry sex chromosomes, and only the female varieties are preferred because they contain cannabinoids in much higher concentrations. Farmers carefully cull through their fields to uproot the male plants so that they dont pollinate the rest of the crop lowering the CBD content in the surrounding females.

To maximize their yield, farmers often sought after feminized seeds that yield mostly female plants. But many of them feel they were sold a bill of goods.

Peterson bought a batch of seeds that was marketed to him as feminized. To his dismay, when the plants grew up, about half of them were males.

So it was three days-worth of work or more because we had to pull plants, Peterson said.

The same thing happened to Amber Berry, who tried growing hemp with her husband near Cedar City. They, too, thought they were getting good seed and ended up with a disappointing blend of male and female plants.

I think everybody jumped in thinking they were going to get rich the first year, said Berry. But theres a reason the value is there. Its not easy to grow, its not easy to do. And I think a lot of people have been let down that way.

Planting an acre of wheat costs about $400 an acre, Harward estimates. Hay is more like $600 an acre, and corn is a little more expensive at $1,200 an acre.

But the price tag for growing hemp dwarfs the others it can easily cost farmers $15,000 an acre, he said. And Harward would guess hes spent more like $20,000 an acre on his crop, if you count the cost of drying the plants and stripping the leaves and flowers off the stems to prepare for CBD extraction.

Tyson Hinkins of Black Dragon Ranch landed one of the states hemp licenses, but the front-end costs were so high that he decided against planting the crop this year.

I was scared, said the Ferron hay farmer, whod been looking to grow hemp with his father, state Sen. David Hinkins, R-Orangeville.

So, hes waited to see how the first year plays out for other Utah farmers.

Berry already anticipates she and her husband wont turn a profit this season; theyll probably try again next year, but on a smaller scale. Even for Harward and Peterson, both of whom had a successful hemp harvest, the battle isnt over. The key to recouping their costs will be careful timing and finding the right buyers, they say.

Since the passage of the 2018 farm bill late last year, the total licensed acreage for hemp cultivation has shot up by more than 455% nationwide, according to Forbes. And the ballooning hemp supply has pushed down prices, especially now that the harvest is coming in.

The price of the oil is rock-bottom, said J.R. Carter, who co-owns Rooster Valley Botanicals in Salina, a company that extracts CBD from hemp. Its the lowest its been all year.

CBD oil that was selling for about $4,500 a liter last year is going for about $800 per liter now, he said. Carters strategy is to hold onto the majority of his oil until the glut subsides and the prices rebound.

That is, if he can discover a doorway into the market, something he and many Utah hemp growers are struggling to do.

I got flower at my house, but I havent had anybody buy it, Peterson said.

Until he does sell it, he wont know if his hemp experiment was worthwhile. Harward is in the same situation, searching for hemp buyers and still wondering if his first-year venture will pan out.

Our long-range goal, he said, is to get through today.

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Utah hemp farmers find success and struggles in their first year of growing - Salt Lake Tribune

What Do Dairy Cows’ Y Chromosomes Have to Do with Young Earth Creationism? Plenty. – Patheos

Most U.S. Dairy Cows Are Descended from Just 2 Bulls. Thats Not Good, reads an NPR article. As I perused the article, it only took me a moment to make a connection to the young earth creationist teachings I was raised on.

A few years ago, Dechow and some of his colleagues at Penn State made a discovery that shocked a lot of people. All the Holstein bulls that farmers were using could trace their lineage back to one of just two male ancestors. Everything goes back to two bulls born in the 1950s and 1960s, he says. Their names were Round Oak Rag Apple Elevation and Pawnee Farm Arlinda Chief.

Or, to put it another way:

When researchers at the Pennsylvania State University looked closely at the male lines a few years ago,they discoveredmore than 99 percent of them can be traced back to one of two bulls, both born in the 1960s. That means among all the male Holsteins in the country, there are just two Y chromosomes.

There are just two Y chromosomes found among all Holstein dairy cows. Ponder that for a moment. And then consider this:According to young earth creationist doctrine, all humans after the flood could trace their lineage back to just one male ancestorNoah.

Think back to what you learned about genetics in high school. Most humans have either two X chromosomes or one X and one Y chromosome. Noah would have had one Y chromosome. His three sons would each have had the same Y chromosome. His grandchildren born after the Flood would also have had the same Y chromosome.Of course, there would have been only one Y chromosome to begin with anyway, hundreds of years before thisAdams.

Young earth creationists play fast and loose with genetics. Genetics does not work this way, and that its why researchers are worried about the U.S. dairy population.

What weve done is really narrowed down the genetic pool, saysChad Dechow, one of the researchers.

The females havent fared much better. In fact, Dechowan associate professor of dairy cattle geneticsand others say there is so much genetic similarity among them, the effective population size is less than 50. If Holsteins were wild animals, that would put them in the category of critically endangered species.

After the Flood, in young earth creationists telling, there was a human population size of 8. At creation, the human population size was 2. The level of inbreeding that would have to take place to end up with a population of millions (and, today, billions) starting with population sizes of 2 or 8 is mind numbing.

Theres a reason there are high rates of certain genetic defects among the Amish population.

Currently, more than 50,000 Lancaster County Amish can trace their lineage to just 80 ancestors

Fewer ancestors mean more sharing of genetic material and any genetic defects the same linked to potentially fatal hereditary diseases like SCID contained therein.

Meanwhile, genetic defects not found in the settler population remain locally non-existent.

This isthe founder effect, and evidence of it has been found in Amish and Mennonite populations from Pennsylvania and Ohio to Ontario, Canada.

The founder effect, population bottlenecksthese are real things that affect real, actual genetics. Again, you probably learned about these things in high school.

The thing about the founder effect and population bottlenecks is thatthey result in the loss of genetic information.That is simply how it works.

Any elementary science student knows that genetic homogeneity isnt good in the long term. It increases the risk of inherited disorders while also reducing the ability of a population to evolve in the face of a changing environment. Dairy farmers struggling to pay bills today arent necessarily focusing on the evolutionary prospects of their animals, but Dechow and his colleagues were concerned enough that they wanted to look more closely at what traits had been lost.

Young earth creationists typically respond to concerns about population bottlenecks in one of two ways. The either argue that the original couples genes contained far more genetic diversity than our genes today, effectively canceling the bottleneck entirely, or they argue that the genetic diversity we see today is the result of random mutations in DNA over time.

Lets take the first argument first. Genes simply do not work like that. A population can have more genetic diversity, but an individual person cant. A population of fifty adults living in Bozeman, Montana, for example, is going to have less genetic diversity than a group of fifty adults chosen at random from every country in the western hemisphere. But an individual adult in Bozeman is not going to have more genetic diversity than an individual adult in Brazil, Honduras, or Haiti. Genetics does not work like that.

Now, the second argumentthat the genetic diversity we see today is the result of mutations. Most scientists believe that all Y chromosomes that exist today can be traced back to one Y chromosome that existed around 150,000 years ago. In other words, all men living today have a common ancestor, sometimes termed Y-chromosomal Adam. Young earth creationists argue the same thing, but they put this ancestor only 4,000 years ago. And that matters!

Imagine the rate of mutation required to get all the Y chromosomes we have today, in only 4,000 years!Ive said it before and Im sure Ill say it again: young earth creationists are far stronger believers in evolution than any evolutionary scientist Ive ever met.

Ill leave you with one last thing, from an Answers in Genesis article titled The genetic effects of the population bottleneck associated with the Genesis Flood:

There is one other consideration to make before we conclude the discussion of created diversity, however: the introduction of mutations to the population prior to Babel. Mutational load in children increases with the age of the father (due to the fact that older men pass on gametes that have gone through many more generations/genome copying events than younger men). Thus, any child born to an ancient person could theoretically carry many genetic differences from other people. Extrapolating from the data of Crow, a man 500 years of age would donate approximately 10,000 mutations to a child (the current average is two orders of magnitude less than that). Konget al.concluded that every extra year of paternity adds an average of about 2 additional mutations. This would mean Noah would only contribute slightly more than 1,000 mutations (40 baseline mutations + 500 years x 2) after age 500. But they also discuss models with an exponential mutational increase over time and only studied men under age 50. Either way, it could be said that Noah, by far the oldest to have fathered children recorded in biblical history, was genetic poison to the future world population, as he would be expected to have contributed many new mutations to each of his three sons (and possibly his daughters-in-law, if they were daughters).

Yes. Yes, they really went there.Its ok that all humans are descended from one coupleNoah and his wifebecause Noah fathered his three sons when he was 500 years old, so they would have had lots and lots of mutations. Yep.

What was that I said about young earth creationists being stronger believers in evolution than any evolutionary scientist out there?

I guess that gives us a solution for the Holstein dairy cows, anywayresearchers should just breed them when theyre super old and their genetic diversity will come back. Because Im sure thats exactly what will happen. (It does not work like that.)

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What Do Dairy Cows' Y Chromosomes Have to Do with Young Earth Creationism? Plenty. - Patheos

Heart and brain health are connected, but what influences both? – Medical News Today

Studies have shown that there is a link between cardiovascular health and brain health, but it is unclear whether genetic or environmental factors are most important in determining them both. A new study in twins suggests that nurture, rather than nature, may be decisive.

Evidence from different studies has suggested that there is a strong link between cardiovascular health and brain health.

Researchers have explained that poor cardiovascular health can, with age, contribute to dementia mechanisms, affecting cognitive function.

But what predisposes a person to poorer or better cardiovascular and brain health? So far, scientists have been unable to answer this question with any degree of certainty.

Generally speaking, there are two types of factors that could influence aspects of heart and brain health in the long term. These are genetic (nonmodifiable) factors and environmental (modifiable) factors, a conjuncture that people sometimes refer to as the "nature vs. nurture" conundrum.

To try to determine whether genes or environmental factors play a more important role in long term health outcomes for the heart and brain, researchers from Emory University in Atlanta, GA, decided to study a cohort able to provide more solid answers: pairs of twins.

Identical (monozygotic) twins have the same genetic profile, while fraternal (dizygotic) twins share about 50% of their genes. As a result, pairs of twins can allow researchers to compare the effects of nature with those of nurture more effectively than other populations.

In the current study the findings of which appear in the Journal of Alzheimer's Disease the researchers analyzed the data of 272 male pairs of monozygotic and dizygotic twins, which they were able to access via the Vietnam Era Twin Registry. All of the participants were free of both cardiovascular disease and dementia at baseline.

More specifically, the investigators looked at the relationship between cardiovascular health which they determined by scoring blood sugar and cholesterol, blood pressure, body mass index (BMI), physical activity, diet, and cigarette smoking and cognitive performance.

"Our study across the entire sample of twins confirmed that better [cardiovascular health] is associated with better cognitive health in several domains," notes senior author Dr. Viola Vaccarino, Ph.D.

"The analyses further suggested that familial factors shared by the twins explain a large part of the association and thus could be important for both cardiovascular and brain health," she adds.

According to the findings of the study, the association between heart and brain health was similar among all pairs of twins, regardless of whether they were identical or fraternal.

The researchers believe that some of the modifiable factors that contribute to a predisposition toward certain heart and brain health outcomes include factors relating to early family life, as well as socioeconomic status and education.

"Improving population-level [cardiovascular health] scores, which are extremely low in the United States, has the potential to reduce the burden of dementia along with heart disease," notes co-author Dr. Ambar Kulshreshtha, Ph.D.

"Because [cardiovascular health] factors are modifiable, prevention of cardiovascular risk factors and promotion of a healthy lifestyle beginning early in life should achieve the best results for promoting not only cardiovascular health but also cognitive health."

Dr. Ambar Kulshreshtha, Ph.D.

The findings, the investigators add, are relevant in the context of the American Heart Association's 2020 Strategic Impact Goal. This goal is a 20% improvement in cardiovascular health and a 20% reduction in deaths from cardiovascular diseases and stroke in the U.S., both by next year.

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Heart and brain health are connected, but what influences both? - Medical News Today

Male Infertility: What to Know and How to Cope – NYT Parenting

Dr. Peter Schlegel, M.D., urologist-in-chief at New York-Presbyterian/Weill Cornell Medical Center and president of the American Society for Reproductive Medicine, Jan. 6, 2019

Barbara Collura, president of RESOLVE: The National Infertility Association, Jan. 10, 2019

Dr. Gloria Bachmann, M.D., director of the Women's Health Institute at Rutgers Robert Wood Johnson Medical School in New Jersey, May 22, 2019

Dr. Marc Goldstein, M.D., director of the Center for Male Reproductive Medicine and Microsurgery at the NewYork-Presbyterian Hospital/Weill Cornell Medical Center, Jan. 4, 2019

Alice Domar, Ph.D., an associate professor of obstetrics, gynecology and reproductive biology at Harvard Medical School and director of Integrative Care at Boston I.V.F., Jan. 11, 2019

Paul Flynn, 46, a social worker in Sacramento, Calif., Jan. 17, 2019

Denny Ceizyk, 52, author of Almost a Father: A Memoir of Male Infertility, Jan. 19, 2019

Diagnostic Evaluation of the Infertile Male: A Committee Opinion, Fertility & Sterility, March 2015

Treatment of Male Infertility (Beyond the Basics), UpToDate, September 2019

Temporal trends in sperm count: a systematic review and meta-regression analysis, Human Reproduction Update, November 2017

Maternal, infant and childhood risks associated with advanced paternal age: The need for comprehensive counseling for men, Maturitas, July 2019

The Negative Impact of Higher Body Mass Index on Sperm Quality and Erectile Function: A Cross-Sectional Study Among Chinese Males of Infertile Couples, The American Journal of Mens Health, Jan. Feb. 2019

Tobacco smoking and semen quality in infertile males: a systematic review and meta-analysis, BMC Public Health, January 2019

Habitual alcohol consumption associated with reduced semen quality and changes in reproductive hormones; a cross-sectional study among 1221 young Danish men, BMJ Open, September 2014

Type of underwear worn and markers of testicular function among men attending a fertility center, Human Reproduction, September 2018

Diet and men's fertility: does diet affect sperm quality? Fertility & Sterility, September 2018

Report on varicocele and infertility: a committee opinion, Fertility & Sterility, December 2014

Mens Experience of Infertility: Findings from a Qualitative Questionnaire Study, Fertility Network U.K., November 2017

Originally posted here:
Male Infertility: What to Know and How to Cope - NYT Parenting

Steps outlined for grouse recovery – Gunnison Country Times

While Gunnison Sage-grouse population numbers have declined over the last four years, federal agents are penciling out what recovery looks like for the species listed as threatened under the Endangered Species Act (ESA).

The U.S. Fish and Wildlife Service (FWS) soon will release its draft Recovery Plan for the bird, whose greatest population lies in the Gunnison Basin.

After the bird was determined to be threatened in 2015, local conservation efforts have been underway in an attempt to preserve the species and avoid a potential endangered listing, which carries much more stringent restrictions. The draft Recovery Plan is the next step in fulfilling requirements under the threatened listing and sets both population and habitat goals which must be achieved for the bird to be delisted.

Things can change over time its not set in stone forever, said FWS Regional Director Noreen Walsh.

FWS representatives met with stakeholders in Gunnison last week to explain the three-step process for Recovery Planning and Implementation under the ESA. While the draft Recovery Plan has yet to be released, FWS officials outlined its contents during the meeting.

The first step in the planning process a Species Status Assessment (SSA) was completed last April. It includes details about each of the eight populations of grouse, said FWS biologist Allison Vendramel.

The SSA informs the second step the Recovery Plan which outlines criteria, actions, time and cost involved in achieving target population and habitat goals. Once released, the public will have 60 days to offer input on the Recovery Plan.

Finally, a Recovery Implementation Strategy will be created to fulfill delisting criteria. Vendramel noted that each step can be revised and expanded as more information is learned in the process.

The road to recovery

The current draft Recovery Plan, Vendramel said, calls for resiliency, redundancy and representation for the species, and that objective and measurable thresholds would signify when recovery likely has been met.

Resiliency, she said, is dependent upon population numbers and the birds ability to adapt to annual climate fluctuations, while redundancy is reliant upon the number of grouse and their distribution. Finally, representation is indicated by the birds ability to adapt to change, its genetic make-up, behavior and ecological conditions. All three qualities must be demonstrated for the bird to be delisted.

The plan sets population and habitat goals as well. Five of the eight grouse populations will be subject to high-male count targets and habitation requirements. For the high-male count target, a running three-year average was determined over the course of at least seven consecutive years.

During the time period used for the calculation, the birds population numbers were highest. From the high-male count, population estimates are generated.

Populations which must achieve high-male count and habitat targets are located in the Gunnison and San Miguel basins, Pion Mesa, Crawford and Monticello. The Gunnison Basin, Vendramel said, demonstrates the greatest resiliency.

Two of the Gunnison Sagegrouse populations Dove Creek and the Cerro Summit-Cimarron-Sims Mesa (CSCSM) will only be required to have the amount of habitat which could potentially support a high-male count target, without actually requiring the number of males.

High-male count for Dove Creek is set at 30 while the same target for CSCSM is only seven.

Efforts to improve some populations

Colorado Parks and Wildlife (CPW) Grouse Conservation Coordinator Kathy Griffin estimates the Gunnison Basins population at 2,862 and the birds population throughout its entire range at 3,299. Those numbers have declined from high estimates in 2016 of 4,440 and 5,141, respectively.

She speculated that the decline was due to two years of drought followed by a harsh winter with late and heavy snows.

Griffin said grouse numbers for both the Gunnison and greater sage-grouse are down across their range in virtually every state, indicating it may be due to normal population fluctuations.

In Gunnison County, efforts have focused on improving habitat and minimizing future impacts to the grouse. In 2006, the county adopted regulations that seek to minimize development conflicts through its landuse review process.

By way of comparison, San Miguel County has taken a different approach than Gunnison County to preserve habitat and protect the bird by focusing on conservation easements. However, like other satellite populations, county leaders have only seen a declining trend in the annual counts, said San Miguel County Commissioner Hilary Cooper.

The San Miguel Basin population, she said, continues to be threatened by oil and gas activity, powerlines, habitat fragmentation and weather changes, and her county is learning from Gunnison Countys example.

Much of our Gunison Sagegrouse habitat is on BLM land and we are actively engaged in protests and litigation against Bureau of Land Management actions that directly impact occupied habitat and threaten the bird, specifically with oil and gas activity, Cooper told the Times. The county is currently developing a GIS analysis in order to guide the most effective actions based on the latest science and lessons learned from the more successful efforts in the Gunnison Basin population.

Steps toward delisting

Recovery actions offered in the draft Recovery Plan include site-specific interventions. Areas prioritized to minimize stressors such as noise and development would be within the four-mile radius of an active lek, according to the plan.

The draft recommends improving public awareness, offering incentives and resources to conserve and improve habitat quality and quantity and better data collection. Recovery actions include relocating Gunnison Basin birds to other populations which have enough habitat to sustain them, and conserving existing habitats by improving management plans.

Finally, delisting the bird was defined during last weeks meeting. Once a species is delisted, Vendramel said a community must decide if it wants to maintain measures which have resulted in recovery.

Delisting is the Fish and Wildlife using a biological rationale to say, This species does not need the protection of the ESA, said Vendramel, noting that when targets are achieved the federal agency exits the picture.

Still, she questioned whether communities would have the will to keep a species such as the grouse from being relisted.

Weve reached a threshold, she said of the situation that exists when targets are met. Does a community want to stay above that threshold?

Recovery Implementation Strategy workshops are scheduled throughout the birds population area in January. The final draft of the Recovery Plan is slated for approval in October 2020.

(Chris Rourke can be contacted at 970.641.1414 or at chris.rourke@gunnisontimes.com .)

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Steps outlined for grouse recovery - Gunnison Country Times

Lesser Kudu Born at Smithsonian’s National Zoo – Smithsonian’s National Zoo and Conservation Biology Institute

Cheetah Conservation Station keepers at the Smithsonians National Zoo are celebrating the arrival of a male lesser kudu calf, who was born Oct. 14 to 5-year-old mother Rogue and 9-year-old father Garrett. During their routine animal health assessments, keepers found that Rogue had given birth and observed the calf nursing, moving well and exploring his environment. A neonatal veterinary exam the following day, Oct. 15, found the calf to be healthy and strong. He is steadily gaining weight, growing from about 13 pounds at the time of his exam to about 19 pounds at 9 days old.

Animal care staff are allowing the calf to bond with mom in a quiet enclosure behind the scenes. His 10-month-old brother, Kushukuru, was present for the birth and continues to spend evenings with the calf and their mother. The younger kudu will make his public debut later this fall, weather permitting.

Keepers describe the calf as bold and alert, and they are looking forward to watching the young brothers explore the habitat, chase one another and spar with each other and their father. The Zoo will provide details about the calfs debut on its Facebook, Instagram and Twitter accounts as the date approaches. Meantime, visitors can view Garrett and Kushukuru at the Cheetah Conservation Station, along with two Abyssinian ground hornbills named Karl and Karoline that share their habitat.

Rogue arrived at the Zoo in October 2016 from the St. Louis Zoo in Missouri, per a recommendation to breed with Garrett. Most of the Zoos animals participate in the Association of Zoos and Aquariums Species Survival Plan (SSP). The SSP scientists determine which animals to breed by considering their genetic makeup, nutritional and social needs, temperament and overall health. This is the second calf for both Rogue and Garrett.

Native to arid and semi-arid areas of northeastern Africa, including parts of Ethiopia, Somalia, Kenya, Sudan, Uganda and Tanzania, lesser kudu are listed as near threatened by the International Union for Conservation of Nature. Lesser kudu number about 100,000 in the wild, but the population is decreasing due to habitat loss from human and livestock expansion, hunting and disease.

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Caption: Lesser kudu female Rogue with her newborn male calf behind the scenes at the Zoos Cheetah Conservation Station.

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Lesser Kudu Born at Smithsonian's National Zoo - Smithsonian's National Zoo and Conservation Biology Institute

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